Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.E14D

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.E14D
c.42A>C
Surrounding Variants
1 paper
NM_002351.5
p.E14V
c.41A>T
1 paper
NM_002351.5
p.E14Q
c.40G>C
1 paper
NM_002351.5
p.R13T
c.38G>C
1 paper
NM_002351.5
p.G16C
c.46G>T
1 paper
NM_002351.5
p.R13_E14insG
c.37_41ins3
2 papers
NM_002351.5
p.G16D
c.47G>A
2 papers
NM_002351.5
p.G16G
c.48C>T
1 paper
NM_002351.5
p.S12S
c.36C>T
3 papers
NM_002351.5
p.E17K
c.49G>A
2 papers
NM_002351.5
p.S12I
c.35G>T
1 paper
NM_002351.5
p.E17G
c.50A>G
1 paper
NM_002351.5
p.S12C
c.34A>T
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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."