Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.S57P

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
2 papers
NM_002351.5
p.S57P
c.169T>C
Surrounding Variants
1 paper
NM_002351.5
p.S57C
c.170C>G
4 papers
NM_002351.5
p.Q58*
c.172C>T
1 paper
NM_002351.5
p.V56fs
c.166_167fs
1 paper
NM_002351.5
p.V56insFs
c.166dupG
7 papers
NM_002351.5
p.R55Q
c.164G>A
2 papers
NM_002351.5
p.R55P
c.164G>C
13 papers
NM_002351.5
p.R55L
c.164G>T
1 paper
NM_002351.5
p.T59delFs
c.175delA
1 paper
NM_002351.5
p.T59fs
c.175_176fs
53 papers
NM_002351.5
p.R55*
c.163C>T
3 papers
NM_002351.5
p.Y54*
c.162C>A
3 papers
NM_002351.5
p.Y54*
c.162C>G
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