Varaico: Literature-Extracted Genetic Variants

Gene:SKAP1
Variant:p.T231A

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.T231A
c.691A>G
Surrounding Variants
1 paper
NM_003726.4
p.D236N
c.706G>A
1 paper
NM_003726.4
p.P241T
c.721C>A
2 papers
NM_003726.4
p.S242G
c.724A>G
1 paper
NM_003726.4
p.L212M
c.634C>A
1 paper
NM_003726.4
p.D211Splc
c.631+663T>G
1 paper
NM_003726.4
p.D211Splc
c.631+655C>T
1 paper
NM_003726.4
p.D276Splc
c.826+2324C>T
1 paper
NM_003726.4
p.E189_F190Splc
c.568-623G>A
1 paper
NM_003726.4
p.E189_F190Splc
c.567+546C>T
1 paper
NM_003726.4
p.D276Splc
c.826+3901A>G
1 paper
NM_003726.4
p.R185S
c.555G>T
1 paper
NM_003726.4
p.R185S
c.555G>C
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