Varaico: Literature-Extracted Genetic Variants

Gene:SKAP1

SKAP1

33 papers

RefSeq Summary

This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The enco...

Pfam Domains

PHaa 108–210UCSCPH domain
SH3_9aa 302–351UCSCVariant SH3 domain

Gene Aliases

HGNC Name

src kinase associated phosphoprotein 1

HGNC Previous Symbol

SCAP1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
6 papers
NM_003726.4
p.G161S
c.481G>A
2 papers
NM_003726.4
p.S242G
c.724A>G
2 papers
NM_003726.4
p.R290Q
c.869G>A
1 paper
NM_003726.4
p.W54*
c.161G>A
1 paper
NM_003726.4
p.W54*
c.162G>A
1 paper
NM_003726.4
p.L78M
c.232C>A
1 paper
NM_003726.4
p.D83N
c.247G>A
1 paper
NM_003726.4
p.G94Splc
c.281-56104C>T
1 paper
NM_003726.4
p.G94Splc
c.281-51142G>A
1 paper
NM_003726.4
p.G94Splc
c.281-50693G>C
1 paper
NM_003726.4
p.G94Splc
c.281-45266A>G
1 paper
NM_003726.4
p.G94Splc
c.281-40888A>G
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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."