hypothetical protein, partial [Homo sapiens]

Run BLAST
Find regions of similarity between this sequence and other sequences using BLAST.
Identify Conserved Domains
View conserved domains detected in this protein sequence using CD-search.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. [Eur J Hum Genet. 2020]
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati MA, Rojas SK, Person RE, Si Y, Wentzensen IM, et al. Eur J Hum Genet. 2020 Jan; 28(1):76-87. Epub 2019 Aug 8.
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs. [Eur J Hum Genet. 2018]
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, et al. Eur J Hum Genet. 2018 Oct; 26(10):1502-1511. Epub 2018 Jun 13.
Mutations of PTPN23 in developmental and epileptic encephalopathy. [Hum Genet. 2017]
Mutations of PTPN23 in developmental and epileptic encephalopathy.
Sowada N, Hashem MO, Yilmaz R, Hamad M, Kakar N, Thiele H, Arold ST, Bode H, Alkuraya FS, Borck G. Hum Genet. 2017 Nov; 136(11-12):1455-1461. Epub 2017 Oct 31.

RefSeq protein isoforms
See 4 reference sequence protein isoforms for the PTPN23 gene.

Nucleotide
Nucleotide sequence from coding region
Taxonomy
Taxonomy sequences associated with protein record
BioSystems
BioSystems
CDD Search Results
Display conserved domains within a protein
Conserved Domains (Concise)
Link to a concise list of conserved domains in a protein
Conserved Domains (Full)
Link to conserved domains within a protein
Domain Relatives
Display proteins with similar conserved domain architecture
Encoding mRNA
Link from protein to encoding mRNA
Gene
Link to related Genes
Identical Structures
3D structures for identical protein sequences
PubMed (Weighted)
Links to pubmed
Related Structures (List)
List of related structures

MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

Your browsing activity is empty.

Activity recording is turned off.

Protein