Links from Protein
Items: 1 to 20 of 356
1.
rs1484824502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:94587364
(GRCh38)
9:97349646
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94587363:G:C
- Gene:
- FBP2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
2.
rs1484570662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:94584659
(GRCh38)
9:97346941
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94584658:A:C
- Gene:
- FBP2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1484066048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:94558978
(GRCh38)
9:97321260
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94558977:T:C
- Gene:
- FBP2 (Varview), PCAT7 (Varview)
- Functional Consequence:
- coding_sequence_variant,non_coding_transcript_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000009.12:g.94558978T>C, NC_000009.11:g.97321260T>C, NM_003837.4:c.980A>G, NM_003837.3:c.980A>G, NM_003837.2:c.980A>G, NR_121566.2:n.396T>C, NR_121566.1:n.396T>C, NR_121567.2:n.311T>C, NR_121567.1:n.311T>C, NR_121569.2:n.276T>C, NR_121569.1:n.276T>C, NR_121568.2:n.73T>C, NR_121568.1:n.73T>C, NP_003828.2:p.Glu327Gly
4.
rs1483237086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:94559021
(GRCh38)
9:97321303
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94559020:G:T
- Gene:
- FBP2 (Varview), PCAT7 (Varview)
- Functional Consequence:
- coding_sequence_variant,non_coding_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000009.12:g.94559021G>T, NC_000009.11:g.97321303G>T, NM_003837.4:c.937C>A, NM_003837.3:c.937C>A, NM_003837.2:c.937C>A, NR_121566.2:n.439G>T, NR_121566.1:n.439G>T, NR_121567.2:n.354G>T, NR_121567.1:n.354G>T, NR_121569.2:n.319G>T, NR_121569.1:n.319G>T, NR_121568.2:n.116G>T, NR_121568.1:n.116G>T, NP_003828.2:p.Gln313Lys
5.
rs1483217737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:94584626
(GRCh38)
9:97346908
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94584625:T:C
- Gene:
- FBP2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000111/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1477448308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:94587317
(GRCh38)
9:97349599
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94587316:T:G
- Gene:
- FBP2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1474176874 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:94567357
(GRCh38)
9:97329639
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94567356:T:C
- Gene:
- FBP2 (Varview), PCAT7 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1471392419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:94567316
(GRCh38)
9:97329598
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94567315:A:G
- Gene:
- FBP2 (Varview), PCAT7 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000056/2
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
9.
rs1468714822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:94571507
(GRCh38)
9:97333789
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94571506:C:A
- Gene:
- FBP2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000111/1
(
ALFA)
A=0.000008/2
(GnomAD_exomes)
- HGVS:
10.
rs1467899701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:94571563
(GRCh38)
9:97333845
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94571562:A:G
- Gene:
- FBP2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1461216731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:94559112
(GRCh38)
9:97321394
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94559111:G:A,NC_000009.12:94559111:G:C
- Gene:
- FBP2 (Varview), PCAT7 (Varview)
- Functional Consequence:
- coding_sequence_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000008/2
(GnomAD_exomes)
- HGVS:
NC_000009.12:g.94559112G>A, NC_000009.12:g.94559112G>C, NC_000009.11:g.97321394G>A, NC_000009.11:g.97321394G>C, NM_003837.4:c.846C>T, NM_003837.4:c.846C>G, NM_003837.3:c.846C>T, NM_003837.3:c.846C>G, NM_003837.2:c.846C>T, NM_003837.2:c.846C>G, NR_121566.2:n.530G>A, NR_121566.2:n.530G>C, NR_121566.1:n.530G>A, NR_121566.1:n.530G>C, NR_121567.2:n.445G>A, NR_121567.2:n.445G>C, NR_121567.1:n.445G>A, NR_121567.1:n.445G>C, NR_121569.2:n.410G>A, NR_121569.2:n.410G>C, NR_121569.1:n.410G>A, NR_121569.1:n.410G>C, NR_121568.2:n.207G>A, NR_121568.2:n.207G>C, NR_121568.1:n.207G>A, NR_121568.1:n.207G>C, NP_003828.2:p.Cys282Trp
13.
rs1459033667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:94559104
(GRCh38)
9:97321386
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94559103:A:G
- Gene:
- FBP2 (Varview), PCAT7 (Varview)
- Functional Consequence:
- coding_sequence_variant,non_coding_transcript_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_000009.12:g.94559104A>G, NC_000009.11:g.97321386A>G, NM_003837.4:c.854T>C, NM_003837.3:c.854T>C, NM_003837.2:c.854T>C, NR_121566.2:n.522A>G, NR_121566.1:n.522A>G, NR_121567.2:n.437A>G, NR_121567.1:n.437A>G, NR_121569.2:n.402A>G, NR_121569.1:n.402A>G, NR_121568.2:n.199A>G, NR_121568.1:n.199A>G, NP_003828.2:p.Val285Ala
15.
rs1450467718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:94593576
(GRCh38)
9:97355858
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94593575:T:C
- Gene:
- FBP2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1448044094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:94567385
(GRCh38)
9:97329667
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94567384:A:T
- Gene:
- FBP2 (Varview), PCAT7 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1446203542 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:94587407
(GRCh38)
9:97349689
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94587406:G:A
- Gene:
- FBP2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1434895235 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 9:94559009
(GRCh38)
9:97321291
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94559008:GGGGG:GGGG
- Gene:
- FBP2 (Varview), PCAT7 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000009.12:g.94559013del, NC_000009.11:g.97321295del, NM_003837.4:c.949del, NM_003837.3:c.949del, NM_003837.2:c.949del, NR_121566.2:n.431del, NR_121566.1:n.431del, NR_121567.2:n.346del, NR_121567.1:n.346del, NR_121569.2:n.311del, NR_121569.1:n.311del, NR_121568.2:n.108del, NR_121568.1:n.108del, NP_003828.2:p.Leu317fs
20.
rs1420187643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:94587360
(GRCh38)
9:97349642
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94587359:C:T
- Gene:
- FBP2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: