Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.Y7H

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.Y7H
c.19T>C
Surrounding Variants
18 papers
NM_002351.5
p.Y7C
c.20A>G
1 paper
NM_002351.5
p.V6E
c.17T>A
1 paper
NM_002351.5
p.V6delFs
c.18delG
1 paper
NM_002351.5
p.H8N
c.22C>A
9 papers
NM_002351.5
p.H8D
c.22C>G
1 paper
NM_002351.5
p.V6L
c.16G>C
6 papers
NM_002351.5
p.H8P
c.23A>C
1 paper
NM_002351.5
p.V6Fs
c.18delinsGGTGAAAGAGGGTGFs
1 paper
NM_002351.5
p.V6delins
c.18delinsGTGAAAGAGGGTG
1 paper
NM_002351.5
p.A5V
c.14C>T
1 paper
NM_002351.5
p.A5fs
c.13_14fs
1 paper
NM_002351.5
p.G9G
c.27C>A
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