Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.S12I

SH2D1A

362 papers

RefSeq Summary

This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte...

Pfam Domains

SH2aa 6–87UCSCSH2 domain

Gene Aliases

HGNC Name

SH2 domain containing 1A

HGNC Previous Symbols

IMD5; LYP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002351.5
p.S12I
c.35G>T
Surrounding Variants
1 paper
NM_002351.5
p.S12C
c.34A>T
1 paper
NM_002351.5
p.S12S
c.36C>T
1 paper
NM_002351.5
p.R13_E14insG
c.37_41ins3
1 paper
NM_002351.5
p.R13T
c.38G>C
2 papers
NM_002351.5
p.I11S
c.32T>G
3 papers
NM_002351.5
p.I11delins
c.31delinsTACAAGGACATATACA
1 paper
NM_002351.5
p.E14Q
c.40G>C
1 paper
NM_002351.5
p.E14V
c.41A>T
1 paper
NM_002351.5
p.E14D
c.42A>C
1 paper
NM_002351.5
p.K10E
c.28A>G
1 paper
NM_002351.5
p.G9G
c.27C>A
1 paper
NM_002351.5
p.G16C
c.46G>T
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