Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.G39V

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
7 papers
NM_002351.5
p.G39V
c.116G>T
Surrounding Variants
6 papers
NM_002351.5
p.G39G
c.117C>T
1 paper
NM_002351.5
p.G39R
c.115G>C
3 papers
NM_002351.5
p.G39_L46delFs
c.116_137del22
1 paper
NM_002351.5
p.G39insFs
c.115_116insG
1 paper
NM_002351.5
p.V40M
c.118G>A
1 paper
NM_002351.5
p.V37E
c.110T>A
1 paper
NM_002351.5
p.Y41*
c.123C>A
1 paper
NM_002351.5
p.Y41*
c.123C>G
1 paper
NM_002351.5
p.V37L
c.109G>C
1 paper
NM_002351.5
p.V37L
c.109G>T
5 papers
NM_002351.5
p.C42Y
c.125G>A
1 paper
NM_002351.5
p.S36N
c.107G>A
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