Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.V102G

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
10 papers
NM_002351.5
p.V102G
c.305T>G
Surrounding Variants
1 paper
NM_002351.5
p.V102insFs
c.306dupT
1 paper
NM_002351.5
p.E103delFs
c.307delG
11 papers
NM_002351.5
p.P101L
c.302C>T
1 paper
NM_002351.5
p.P101T
c.301C>A
5 papers
NM_002351.5
p.Y100*
c.300T>A
5 papers
NM_002351.5
p.Y100*
c.300T>G
1 paper
NM_002351.5
p.K104_K105insFs
c.312_313insG
10 papers
NM_002351.5
p.Q99P
c.296A>C
3 papers
NM_002351.5
p.Q99*
c.295C>T
1 paper
NM_002351.5
p.S106insFs
c.316dupT
1 paper
NM_002351.5
p.L98Q
c.293T>A
2 papers
NM_002351.5
p.L98P
c.293T>C
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