Overview

Variant ID 10368
Entrez Gene ID 8935
Gene SKAP2 (GeneCards)
Location hg19 7:27040981-27040981
hg38 7:27001362-27001362
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000007.13:g.27040981 C>T (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 159138663

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3521
CADD Raw score (version 1.3) 0.037265 (Deleterious)
FATHMM raw prediction score 0.07597 (Tolerated)
Deleterious probability by DeFine 0.1274 (Neutral)
Entrez Gene ID 8935 (NCBI Gene)
Official Gene Symbol SKAP2 (GeneCards)
Number of variants in SKAP2 in this database 6 (view all the variants)
Full name src kinase associated phosphoprotein 2
Band 7p15.2
Other IDs Vega: OTTHUMG00000023495
OMIM: 605215
HGNC: HGNC:15687
Ensembl: ENSG00000005020
Other names PRAP, RA70, SAPS, SCAP2, SKAP55R, SKAP-HOM
Summary The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]

Individual #1

Individual ID 29217584.01 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;