Varaico: Literature-Extracted Genetic Variants

Gene:SKAP2
Variant:p.E43D

SKAP2

43 papers

RefSeq 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 ro...

Pfam Domains

PHaa 117–219UCSCPH domain
SH3_1aa 305–350UCSCSH3 domain

Gene Aliases

HGNC Name

src kinase associated phosphoprotein 2

HGNC Previous Symbol

SCAP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003930.5
p.E43D
c.129A>C
Surrounding Variants
1 paper
NM_003930.5
p.E43D
c.129A>T
1 paper
NM_003930.5
p.Q61K
c.181C>A
1 paper
NM_003930.5
p.G67C
c.199G>T
1 paper
NM_003930.5
p.L21S
c.62T>C
1 paper
NM_003930.5
p.P12L
c.35C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."