Varaico: Literature-Extracted Genetic Variants

Gene:SKAP1
Variant:p.V293Splc

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
Selected Variant
1 paper
NM_003726.4
p.V293Splc
c.877+3202C>T
Surrounding Variants
1 paper
NM_003726.4
p.V293Splc
c.878-1691G>A
2 papers
NM_003726.4
p.R290Q
c.869G>A
1 paper
NM_003726.4
p.D276Splc
c.827-973G>A
1 paper
NM_003726.4
p.V293Splc
c.878-332G>A
1 paper
NM_003726.4
p.W303C
c.909G>T
1 paper
NM_003726.4
p.W303C
c.909G>C
1 paper
NM_003726.4
p.L313L
c.937C>T
1 paper
NM_003726.4
p.D276Splc
c.827-1771T>C
1 paper
NM_003726.4
p.D276Splc
c.827-3370A>G
1 paper
NM_003726.4
p.K326_E327Splc
c.978+1841T>C
1 paper
NM_003726.4
p.K326_E327Splc
c.978+2049T>C
1 paper
NM_003726.4
p.K326_E327Splc
c.978+3250C>T
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