Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A

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
1–12 of 265 variants
53 papers
NM_002351.5
p.R55*
c.163C>T
20 papers
NM_002351.5
p.S28R
c.84C>A
20 papers
NM_002351.5
p.S28R
c.84C>G
19 papers
NM_002351.5
p.S28R
c.82A>C
18 papers
NM_002351.5
p.Y7C
c.20A>G
16 papers
NM_002351.5
p.R32T
c.95G>C
14 papers
NM_002351.5
p.G27S
c.79G>A
13 papers
NM_002351.5
p.R55L
c.164G>T
13 papers
NM_002351.5
p.W64*
c.192G>A
13 papers
NM_002351.5
p.T68I
c.203C>T
12 papers
NM_002351.5
p.A3S
c.7G>T
12 papers
NM_002351.5
p.Y54C
c.161A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."