Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.Y41*

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
1 paper
NM_002351.5
p.Y41*
c.123C>G
Surrounding Variants
1 paper
NM_002351.5
p.Y41*
c.123C>A
5 papers
NM_002351.5
p.C42Y
c.125G>A
11 papers
NM_002351.5
p.C42W
c.126C>G
1 paper
NM_002351.5
p.V40M
c.118G>A
6 papers
NM_002351.5
p.G39G
c.117C>T
7 papers
NM_002351.5
p.G39V
c.116G>T
1 paper
NM_002351.5
p.C44R
c.130T>C
1 paper
NM_002351.5
p.C44Y
c.131G>A
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
3 papers
NM_002351.5
p.V45M
c.133G>A
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