SNP Links for Protein (Select 1171343317) - SNP

Select item 14893422871.

rs1489342287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42884437 (GRCh38)
22:43280443 (GRCh37)
Canonical SPDI:: NC_000022.11:42884436:C:T
Gene:: PACSIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
HGVS:: NC_000022.11:g.42884437C>T, NC_000022.10:g.43280443C>T, NM_007229.3:c.734G>A, NM_001184970.3:c.734G>A, NM_001184970.2:c.734G>A, NM_001184970.1:c.734G>A, NM_001349969.2:c.734G>A, NM_001349969.1:c.734G>A, NM_001349970.2:c.734G>A, NM_001349970.1:c.734G>A, NM_001349971.2:c.734G>A, NM_001349971.1:c.734G>A, NM_001349974.2:c.611G>A, NM_001349974.1:c.611G>A, NM_001349968.1:c.734G>A, NM_001349973.1:c.734G>A, NM_001349972.1:c.734G>A, NM_001184971.1:c.734G>A, NP_009160.2:p.Arg245Gln, NP_001171899.1:p.Arg245Gln, NP_001336898.1:p.Arg245Gln, NP_001336899.1:p.Arg245Gln, NP_001336900.1:p.Arg245Gln, NP_001336903.1:p.Arg204Gln, NP_001336897.1:p.Arg245Gln, NP_001336902.1:p.Arg245Gln, NP_001336901.1:p.Arg245Gln, NP_001171900.1:p.Arg245Gln

Select item 14884958502.

rs1488495850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42876173 (GRCh38)
22:43272179 (GRCh37)
Canonical SPDI:: NC_000022.11:42876172:C:T
Gene:: PACSIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.42876173C>T, NC_000022.10:g.43272179C>T, NM_007229.3:c.1312G>A, NM_001184970.3:c.1312G>A, NM_001184970.2:c.1312G>A, NM_001184970.1:c.1312G>A, NM_001349969.2:c.1318G>A, NM_001349969.1:c.1318G>A, NM_001349970.2:c.1318G>A, NM_001349970.1:c.1318G>A, NM_001349971.2:c.1195G>A, NM_001349971.1:c.1195G>A, NM_001349974.2:c.1072G>A, NM_001349974.1:c.1072G>A, NM_001349968.1:c.1195G>A, NM_001349973.1:c.1195G>A, NM_001349972.1:c.1195G>A, NM_001184971.1:c.1189G>A, NP_009160.2:p.Glu438Lys, NP_001171899.1:p.Glu438Lys, NP_001336898.1:p.Glu440Lys, NP_001336899.1:p.Glu440Lys, NP_001336900.1:p.Glu399Lys, NP_001336903.1:p.Glu358Lys, NP_001336897.1:p.Glu399Lys, NP_001336902.1:p.Glu399Lys, NP_001336901.1:p.Glu399Lys, NP_001171900.1:p.Glu397Lys

Select item 14863020303.

rs1486302030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:42876190 (GRCh38)
22:43272196 (GRCh37)
Canonical SPDI:: NC_000022.11:42876189:C:A,NC_000022.11:42876189:C:T
Gene:: PACSIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.42876190C>A, NC_000022.11:g.42876190C>T, NC_000022.10:g.43272196C>A, NC_000022.10:g.43272196C>T, NM_007229.3:c.1295G>T, NM_007229.3:c.1295G>A, NM_001184970.3:c.1295G>T, NM_001184970.3:c.1295G>A, NM_001184970.2:c.1295G>T, NM_001184970.2:c.1295G>A, NM_001184970.1:c.1295G>T, NM_001184970.1:c.1295G>A, NM_001349969.2:c.1301G>T, NM_001349969.2:c.1301G>A, NM_001349969.1:c.1301G>T, NM_001349969.1:c.1301G>A, NM_001349970.2:c.1301G>T, NM_001349970.2:c.1301G>A, NM_001349970.1:c.1301G>T, NM_001349970.1:c.1301G>A, NM_001349971.2:c.1178G>T, NM_001349971.2:c.1178G>A, NM_001349971.1:c.1178G>T, NM_001349971.1:c.1178G>A, NM_001349974.2:c.1055G>T, NM_001349974.2:c.1055G>A, NM_001349974.1:c.1055G>T, NM_001349974.1:c.1055G>A, NM_001349968.1:c.1178G>T, NM_001349968.1:c.1178G>A, NM_001349973.1:c.1178G>T, NM_001349973.1:c.1178G>A, NM_001349972.1:c.1178G>T, NM_001349972.1:c.1178G>A, NM_001184971.1:c.1172G>T, NM_001184971.1:c.1172G>A, NP_009160.2:p.Arg432Leu, NP_009160.2:p.Arg432Gln, NP_001171899.1:p.Arg432Leu, NP_001171899.1:p.Arg432Gln, NP_001336898.1:p.Arg434Leu, NP_001336898.1:p.Arg434Gln, NP_001336899.1:p.Arg434Leu, NP_001336899.1:p.Arg434Gln, NP_001336900.1:p.Arg393Leu, NP_001336900.1:p.Arg393Gln, NP_001336903.1:p.Arg352Leu, NP_001336903.1:p.Arg352Gln, NP_001336897.1:p.Arg393Leu, NP_001336897.1:p.Arg393Gln, NP_001336902.1:p.Arg393Leu, NP_001336902.1:p.Arg393Gln, NP_001336901.1:p.Arg393Leu, NP_001336901.1:p.Arg393Gln, NP_001171900.1:p.Arg391Leu, NP_001171900.1:p.Arg391Gln

Select item 14830016444.

rs1483001644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42871427 (GRCh38)
22:43267433 (GRCh37)
Canonical SPDI:: NC_000022.11:42871426:C:T
Gene:: PACSIN2 (Varview), LOC101927393 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.42871427C>T, NC_000022.10:g.43267433C>T, XR_244440.4:n.14C>T, XR_244440.3:n.153C>T, XR_244440.2:n.14C>T, NM_007229.3:c.1391G>A, NM_001184970.3:c.1391G>A, NM_001184970.2:c.1391G>A, NM_001184970.1:c.1391G>A, NM_001349969.2:c.1397G>A, NM_001349969.1:c.1397G>A, NM_001349970.2:c.1397G>A, NM_001349970.1:c.1397G>A, XR_001755575.2:n.14C>T, XR_001755575.1:n.14C>T, NM_001349971.2:c.1274G>A, NM_001349971.1:c.1274G>A, NM_001349974.2:c.1151G>A, NM_001349974.1:c.1151G>A, NM_001349968.1:c.1274G>A, NM_001349973.1:c.1274G>A, NM_001349972.1:c.1274G>A, NM_001184971.1:c.1268G>A, NP_009160.2:p.Trp464Ter, NP_001171899.1:p.Trp464Ter, NP_001336898.1:p.Trp466Ter, NP_001336899.1:p.Trp466Ter, NP_001336900.1:p.Trp425Ter, NP_001336903.1:p.Trp384Ter, NP_001336897.1:p.Trp425Ter, NP_001336902.1:p.Trp425Ter, NP_001336901.1:p.Trp425Ter, NP_001171900.1:p.Trp423Ter

Select item 14827806595.

rs1482780659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:42912048 (GRCh38)
22:43308054 (GRCh37)
Canonical SPDI:: NC_000022.11:42912047:T:C
Gene:: PACSIN2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.42912048T>C, NC_000022.10:g.43308054T>C, NM_007229.3:c.33A>G, NM_001184970.3:c.33A>G, NM_001184970.2:c.33A>G, NM_001184970.1:c.33A>G, NM_001349969.2:c.33A>G, NM_001349969.1:c.33A>G, NM_001349970.2:c.33A>G, NM_001349970.1:c.33A>G, NM_001349971.2:c.33A>G, NM_001349971.1:c.33A>G, NM_001349968.1:c.33A>G, NM_001349973.1:c.33A>G, NM_001349972.1:c.33A>G, NM_001184971.1:c.33A>G

Select item 14811968226.

rs1481196822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:42893513 (GRCh38)
22:43289519 (GRCh37)
Canonical SPDI:: NC_000022.11:42893512:G:A
Gene:: PACSIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.00003/8 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000022.11:g.42893513G>A, NC_000022.10:g.43289519G>A, NM_007229.3:c.161C>T, NM_001184970.3:c.161C>T, NM_001184970.2:c.161C>T, NM_001184970.1:c.161C>T, NM_001349969.2:c.161C>T, NM_001349969.1:c.161C>T, NM_001349970.2:c.161C>T, NM_001349970.1:c.161C>T, NM_001349971.2:c.161C>T, NM_001349971.1:c.161C>T, NM_001349974.2:c.38C>T, NM_001349974.1:c.38C>T, NM_001349968.1:c.161C>T, NM_001349973.1:c.161C>T, NM_001349972.1:c.161C>T, NM_001184971.1:c.161C>T, NP_009160.2:p.Ala54Val, NP_001171899.1:p.Ala54Val, NP_001336898.1:p.Ala54Val, NP_001336899.1:p.Ala54Val, NP_001336900.1:p.Ala54Val, NP_001336903.1:p.Ala13Val, NP_001336897.1:p.Ala54Val, NP_001336902.1:p.Ala54Val, NP_001336901.1:p.Ala54Val, NP_001171900.1:p.Ala54Val

Select item 14803342137.

rs1480334213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42893525 (GRCh38)
22:43289531 (GRCh37)
Canonical SPDI:: NC_000022.11:42893524:C:T
Gene:: PACSIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.42893525C>T, NC_000022.10:g.43289531C>T, NM_007229.3:c.149G>A, NM_001184970.3:c.149G>A, NM_001184970.2:c.149G>A, NM_001184970.1:c.149G>A, NM_001349969.2:c.149G>A, NM_001349969.1:c.149G>A, NM_001349970.2:c.149G>A, NM_001349970.1:c.149G>A, NM_001349971.2:c.149G>A, NM_001349971.1:c.149G>A, NM_001349974.2:c.26G>A, NM_001349974.1:c.26G>A, NM_001349968.1:c.149G>A, NM_001349973.1:c.149G>A, NM_001349972.1:c.149G>A, NM_001184971.1:c.149G>A, NP_009160.2:p.Arg50His, NP_001171899.1:p.Arg50His, NP_001336898.1:p.Arg50His, NP_001336899.1:p.Arg50His, NP_001336900.1:p.Arg50His, NP_001336903.1:p.Arg9His, NP_001336897.1:p.Arg50His, NP_001336902.1:p.Arg50His, NP_001336901.1:p.Arg50His, NP_001171900.1:p.Arg50His

Select item 14786482518.

rs1478648251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42891139 (GRCh38)
22:43287145 (GRCh37)
Canonical SPDI:: NC_000022.11:42891138:C:T
Gene:: PACSIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.42891139C>T, NC_000022.10:g.43287145C>T, NM_007229.3:c.261G>A, NM_001184970.3:c.261G>A, NM_001184970.2:c.261G>A, NM_001184970.1:c.261G>A, NM_001349969.2:c.261G>A, NM_001349969.1:c.261G>A, NM_001349970.2:c.261G>A, NM_001349970.1:c.261G>A, NM_001349971.2:c.261G>A, NM_001349971.1:c.261G>A, NM_001349974.2:c.138G>A, NM_001349974.1:c.138G>A, NM_001349968.1:c.261G>A, NM_001349973.1:c.261G>A, NM_001349972.1:c.261G>A, NM_001184971.1:c.261G>A, NP_009160.2:p.Met87Ile, NP_001171899.1:p.Met87Ile, NP_001336898.1:p.Met87Ile, NP_001336899.1:p.Met87Ile, NP_001336900.1:p.Met87Ile, NP_001336903.1:p.Met46Ile, NP_001336897.1:p.Met87Ile, NP_001336902.1:p.Met87Ile, NP_001336901.1:p.Met87Ile, NP_001171900.1:p.Met87Ile

Select item 14784220579.

rs1478422057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:42893529 (GRCh38)
22:43289535 (GRCh37)
Canonical SPDI:: NC_000022.11:42893528:C:A
Gene:: PACSIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.42893529C>A, NC_000022.10:g.43289535C>A, NM_007229.3:c.145G>T, NM_001184970.3:c.145G>T, NM_001184970.2:c.145G>T, NM_001184970.1:c.145G>T, NM_001349969.2:c.145G>T, NM_001349969.1:c.145G>T, NM_001349970.2:c.145G>T, NM_001349970.1:c.145G>T, NM_001349971.2:c.145G>T, NM_001349971.1:c.145G>T, NM_001349974.2:c.22G>T, NM_001349974.1:c.22G>T, NM_001349968.1:c.145G>T, NM_001349973.1:c.145G>T, NM_001349972.1:c.145G>T, NM_001184971.1:c.145G>T, NP_009160.2:p.Ala49Ser, NP_001171899.1:p.Ala49Ser, NP_001336898.1:p.Ala49Ser, NP_001336899.1:p.Ala49Ser, NP_001336900.1:p.Ala49Ser, NP_001336903.1:p.Ala8Ser, NP_001336897.1:p.Ala49Ser, NP_001336902.1:p.Ala49Ser, NP_001336901.1:p.Ala49Ser, NP_001171900.1:p.Ala49Ser

Select item 147728327210.

rs1477283272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:42879157 (GRCh38)
22:43275163 (GRCh37)
Canonical SPDI:: NC_000022.11:42879156:C:G
Gene:: PACSIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.42879157C>G, NC_000022.10:g.43275163C>G, NM_007229.3:c.919G>C, NM_001184970.3:c.919G>C, NM_001184970.2:c.919G>C, NM_001184970.1:c.919G>C, NM_001349969.2:c.925G>C, NM_001349969.1:c.925G>C, NM_001349970.2:c.925G>C, NM_001349970.1:c.925G>C, NM_001349971.2:c.925G>C, NM_001349971.1:c.925G>C, NM_001349974.2:c.802G>C, NM_001349974.1:c.802G>C, NM_001349968.1:c.925G>C, NM_001349973.1:c.925G>C, NM_001349972.1:c.925G>C, NM_001184971.1:c.919G>C, NP_009160.2:p.Asp307His, NP_001171899.1:p.Asp307His, NP_001336898.1:p.Asp309His, NP_001336899.1:p.Asp309His, NP_001336900.1:p.Asp309His, NP_001336903.1:p.Asp268His, NP_001336897.1:p.Asp309His, NP_001336902.1:p.Asp309His, NP_001336901.1:p.Asp309His, NP_001171900.1:p.Asp307His

Select item 146961150111.

rs1469611501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:42876147 (GRCh38)
22:43272153 (GRCh37)
Canonical SPDI:: NC_000022.11:42876146:G:A
Gene:: PACSIN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.42876147G>A, NC_000022.10:g.43272153G>A, NM_007229.3:c.1338C>T, NM_001184970.3:c.1338C>T, NM_001184970.2:c.1338C>T, NM_001184970.1:c.1338C>T, NM_001349969.2:c.1344C>T, NM_001349969.1:c.1344C>T, NM_001349970.2:c.1344C>T, NM_001349970.1:c.1344C>T, NM_001349971.2:c.1221C>T, NM_001349971.1:c.1221C>T, NM_001349974.2:c.1098C>T, NM_001349974.1:c.1098C>T, NM_001349968.1:c.1221C>T, NM_001349973.1:c.1221C>T, NM_001349972.1:c.1221C>T, NM_001184971.1:c.1215C>T

Select item 146709097212.

rs1467090972 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:42891014 (GRCh38)
22:43287020 (GRCh37)
Canonical SPDI:: NC_000022.11:42891013:T:C
Gene:: PACSIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.42891014T>C, NC_000022.10:g.43287020T>C, NM_007229.3:c.386A>G, NM_001184970.3:c.386A>G, NM_001184970.2:c.386A>G, NM_001184970.1:c.386A>G, NM_001349969.2:c.386A>G, NM_001349969.1:c.386A>G, NM_001349970.2:c.386A>G, NM_001349970.1:c.386A>G, NM_001349971.2:c.386A>G, NM_001349971.1:c.386A>G, NM_001349974.2:c.263A>G, NM_001349974.1:c.263A>G, NM_001349968.1:c.386A>G, NM_001349973.1:c.386A>G, NM_001349972.1:c.386A>G, NM_001184971.1:c.386A>G, NP_009160.2:p.Lys129Arg, NP_001171899.1:p.Lys129Arg, NP_001336898.1:p.Lys129Arg, NP_001336899.1:p.Lys129Arg, NP_001336900.1:p.Lys129Arg, NP_001336903.1:p.Lys88Arg, NP_001336897.1:p.Lys129Arg, NP_001336902.1:p.Lys129Arg, NP_001336901.1:p.Lys129Arg, NP_001171900.1:p.Lys129Arg

Select item 146478284213.

rs1464782842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:42871375 (GRCh38)
22:43267381 (GRCh37)
Canonical SPDI:: NC_000022.11:42871374:A:G
Gene:: PACSIN2 (Varview), LOC101927393 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.42871375A>G, NC_000022.10:g.43267381A>G, NM_007229.3:c.1443T>C, NM_001184970.3:c.1443T>C, NM_001184970.2:c.1443T>C, NM_001184970.1:c.1443T>C, NM_001349969.2:c.1449T>C, NM_001349969.1:c.1449T>C, NM_001349970.2:c.1449T>C, NM_001349970.1:c.1449T>C, NM_001349971.2:c.1326T>C, NM_001349971.1:c.1326T>C, NM_001349974.2:c.1203T>C, NM_001349974.1:c.1203T>C, NM_001349968.1:c.1326T>C, NM_001349973.1:c.1326T>C, NM_001349972.1:c.1326T>C, NM_001184971.1:c.1320T>C

Select item 146097210114.

rs1460972101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42893531 (GRCh38)
22:43289537 (GRCh37)
Canonical SPDI:: NC_000022.11:42893530:C:T
Gene:: PACSIN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.42893531C>T, NC_000022.10:g.43289537C>T, NM_007229.3:c.143G>A, NM_001184970.3:c.143G>A, NM_001184970.2:c.143G>A, NM_001184970.1:c.143G>A, NM_001349969.2:c.143G>A, NM_001349969.1:c.143G>A, NM_001349970.2:c.143G>A, NM_001349970.1:c.143G>A, NM_001349971.2:c.143G>A, NM_001349971.1:c.143G>A, NM_001349974.2:c.20G>A, NM_001349974.1:c.20G>A, NM_001349968.1:c.143G>A, NM_001349973.1:c.143G>A, NM_001349972.1:c.143G>A, NM_001184971.1:c.143G>A, NP_009160.2:p.Arg48Gln, NP_001171899.1:p.Arg48Gln, NP_001336898.1:p.Arg48Gln, NP_001336899.1:p.Arg48Gln, NP_001336900.1:p.Arg48Gln, NP_001336903.1:p.Arg7Gln, NP_001336897.1:p.Arg48Gln, NP_001336902.1:p.Arg48Gln, NP_001336901.1:p.Arg48Gln, NP_001171900.1:p.Arg48Gln

Select item 145945607415.

rs1459456074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:42888688 (GRCh38)
22:43284694 (GRCh37)
Canonical SPDI:: NC_000022.11:42888687:C:A,NC_000022.11:42888687:C:T
Gene:: PACSIN2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.42888688C>A, NC_000022.11:g.42888688C>T, NC_000022.10:g.43284694C>A, NC_000022.10:g.43284694C>T, NM_007229.3:c.564G>T, NM_007229.3:c.564G>A, NM_001184970.3:c.564G>T, NM_001184970.3:c.564G>A, NM_001184970.2:c.564G>T, NM_001184970.2:c.564G>A, NM_001184970.1:c.564G>T, NM_001184970.1:c.564G>A, NM_001349969.2:c.564G>T, NM_001349969.2:c.564G>A, NM_001349969.1:c.564G>T, NM_001349969.1:c.564G>A, NM_001349970.2:c.564G>T, NM_001349970.2:c.564G>A, NM_001349970.1:c.564G>T, NM_001349970.1:c.564G>A, NM_001349971.2:c.564G>T, NM_001349971.2:c.564G>A, NM_001349971.1:c.564G>T, NM_001349971.1:c.564G>A, NM_001349974.2:c.441G>T, NM_001349974.2:c.441G>A, NM_001349974.1:c.441G>T, NM_001349974.1:c.441G>A, NM_001349968.1:c.564G>T, NM_001349968.1:c.564G>A, NM_001349973.1:c.564G>T, NM_001349973.1:c.564G>A, NM_001349972.1:c.564G>T, NM_001349972.1:c.564G>A, NM_001184971.1:c.564G>T, NM_001184971.1:c.564G>A, NP_009160.2:p.Lys188Asn, NP_001171899.1:p.Lys188Asn, NP_001336898.1:p.Lys188Asn, NP_001336899.1:p.Lys188Asn, NP_001336900.1:p.Lys188Asn, NP_001336903.1:p.Lys147Asn, NP_001336897.1:p.Lys188Asn, NP_001336902.1:p.Lys188Asn, NP_001336901.1:p.Lys188Asn, NP_001171900.1:p.Lys188Asn

Select item 145853201216.

rs1458532012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42882190 (GRCh38)
22:43278196 (GRCh37)
Canonical SPDI:: NC_000022.11:42882189:C:T
Gene:: PACSIN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.42882190C>T, NC_000022.10:g.43278196C>T, NM_007229.3:c.900G>A, NM_001184970.3:c.900G>A, NM_001184970.2:c.900G>A, NM_001184970.1:c.900G>A, NM_001349969.2:c.900G>A, NM_001349969.1:c.900G>A, NM_001349970.2:c.900G>A, NM_001349970.1:c.900G>A, NM_001349971.2:c.900G>A, NM_001349971.1:c.900G>A, NM_001349974.2:c.777G>A, NM_001349974.1:c.777G>A, NM_001349968.1:c.900G>A, NM_001349973.1:c.900G>A, NM_001349972.1:c.900G>A, NM_001184971.1:c.900G>A

Select item 145846485717.

rs1458464857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:42882257 (GRCh38)
22:43278263 (GRCh37)
Canonical SPDI:: NC_000022.11:42882256:T:A
Gene:: PACSIN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.42882257T>A, NC_000022.10:g.43278263T>A, NM_007229.3:c.833A>T, NM_001184970.3:c.833A>T, NM_001184970.2:c.833A>T, NM_001184970.1:c.833A>T, NM_001349969.2:c.833A>T, NM_001349969.1:c.833A>T, NM_001349970.2:c.833A>T, NM_001349970.1:c.833A>T, NM_001349971.2:c.833A>T, NM_001349971.1:c.833A>T, NM_001349974.2:c.710A>T, NM_001349974.1:c.710A>T, NM_001349968.1:c.833A>T, NM_001349973.1:c.833A>T, NM_001349972.1:c.833A>T, NM_001184971.1:c.833A>T, NP_009160.2:p.Asp278Val, NP_001171899.1:p.Asp278Val, NP_001336898.1:p.Asp278Val, NP_001336899.1:p.Asp278Val, NP_001336900.1:p.Asp278Val, NP_001336903.1:p.Asp237Val, NP_001336897.1:p.Asp278Val, NP_001336902.1:p.Asp278Val, NP_001336901.1:p.Asp278Val, NP_001171900.1:p.Asp278Val

Select item 144529145918.

rs1445291459 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:42884548 (GRCh38)
22:43280554 (GRCh37)
Canonical SPDI:: NC_000022.11:42884547:T:C
Gene:: PACSIN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.42884548T>C, NC_000022.10:g.43280554T>C, NM_007229.3:c.623A>G, NM_001184970.3:c.623A>G, NM_001184970.2:c.623A>G, NM_001184970.1:c.623A>G, NM_001349969.2:c.623A>G, NM_001349969.1:c.623A>G, NM_001349970.2:c.623A>G, NM_001349970.1:c.623A>G, NM_001349971.2:c.623A>G, NM_001349971.1:c.623A>G, NM_001349974.2:c.500A>G, NM_001349974.1:c.500A>G, NM_001349968.1:c.623A>G, NM_001349973.1:c.623A>G, NM_001349972.1:c.623A>G, NM_001184971.1:c.623A>G, NP_009160.2:p.Tyr208Cys, NP_001171899.1:p.Tyr208Cys, NP_001336898.1:p.Tyr208Cys, NP_001336899.1:p.Tyr208Cys, NP_001336900.1:p.Tyr208Cys, NP_001336903.1:p.Tyr167Cys, NP_001336897.1:p.Tyr208Cys, NP_001336902.1:p.Tyr208Cys, NP_001336901.1:p.Tyr208Cys, NP_001171900.1:p.Tyr208Cys

Select item 143921301519.

rs1439213015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:42879123 (GRCh38)
22:43275129 (GRCh37)
Canonical SPDI:: NC_000022.11:42879122:T:C
Gene:: PACSIN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.42879123T>C, NC_000022.10:g.43275129T>C, NM_007229.3:c.953A>G, NM_001184970.3:c.953A>G, NM_001184970.2:c.953A>G, NM_001184970.1:c.953A>G, NM_001349969.2:c.959A>G, NM_001349969.1:c.959A>G, NM_001349970.2:c.959A>G, NM_001349970.1:c.959A>G, NM_001349971.2:c.959A>G, NM_001349971.1:c.959A>G, NM_001349974.2:c.836A>G, NM_001349974.1:c.836A>G, NM_001349968.1:c.959A>G, NM_001349973.1:c.959A>G, NM_001349972.1:c.959A>G, NM_001184971.1:c.953A>G, NP_009160.2:p.Lys318Arg, NP_001171899.1:p.Lys318Arg, NP_001336898.1:p.Lys320Arg, NP_001336899.1:p.Lys320Arg, NP_001336900.1:p.Lys320Arg, NP_001336903.1:p.Lys279Arg, NP_001336897.1:p.Lys320Arg, NP_001336902.1:p.Lys320Arg, NP_001336901.1:p.Lys320Arg, NP_001171900.1:p.Lys318Arg

Select item 143724275020.

rs1437242750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:42891058 (GRCh38)
22:43287064 (GRCh37)
Canonical SPDI:: NC_000022.11:42891057:G:C
Gene:: PACSIN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.42891058G>C, NC_000022.10:g.43287064G>C, NM_007229.3:c.342C>G, NM_001184970.3:c.342C>G, NM_001184970.2:c.342C>G, NM_001184970.1:c.342C>G, NM_001349969.2:c.342C>G, NM_001349969.1:c.342C>G, NM_001349970.2:c.342C>G, NM_001349970.1:c.342C>G, NM_001349971.2:c.342C>G, NM_001349971.1:c.342C>G, NM_001349974.2:c.219C>G, NM_001349974.1:c.219C>G, NM_001349968.1:c.342C>G, NM_001349973.1:c.342C>G, NM_001349972.1:c.342C>G, NM_001184971.1:c.342C>G, NP_009160.2:p.Asn114Lys, NP_001171899.1:p.Asn114Lys, NP_001336898.1:p.Asn114Lys, NP_001336899.1:p.Asn114Lys, NP_001336900.1:p.Asn114Lys, NP_001336903.1:p.Asn73Lys, NP_001336897.1:p.Asn114Lys, NP_001336902.1:p.Asn114Lys, NP_001336901.1:p.Asn114Lys, NP_001171900.1:p.Asn114Lys

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Result Filters

Validation Status

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Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 454

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