Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.Y76*

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.Y76*
c.228T>G
Surrounding Variants
8 papers
NM_002351.5
p.Y76*
c.228T>A
1 paper
NM_002351.5
p.R78W
c.232C>T
1 paper
NM_002351.5
p.R75*
c.223A>T
2 papers
NM_002351.5
p.K74R
c.221A>G
1 paper
NM_002351.5
p.I80fs
c.238_239fs
1 paper
NM_002351.5
p.H73D
c.217C>G
1 paper
NM_002351.5
p.H73Y
c.217C>T
1 paper
NM_002351.5
p.I80R
c.239T>G
6 papers
NM_002351.5
p.N82insFs
c.245dupA
1 paper
NM_002351.5
p.N82delFs
c.245delA
1 paper
NM_002351.5
p.K81fs
c.241_242fs
1 paper
NM_002351.5
p.V72E
c.215T>A
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