Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.I94I

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.I94I
c.282T>C
Surrounding Variants
1 paper
NM_002351.5
p.V95_I96delFs
c.284_287del4
1 paper
NM_002351.5
p.V95delFs
c.285delA
1 paper
NM_002351.5
p.I96fs
c.286_287fs
7 papers
NM_002351.5
p.G93D
c.278G>A
1 paper
NM_002351.5
p.P97S
c.289C>T
1 paper
NM_002351.5
p.Q92K
c.274C>A
1 paper
NM_002351.5
p.Q92E
c.274C>G
1 paper
NM_002351.5
p.D91_Q92insT
c.271_275ins3
1 paper
NM_002351.5
p.L98Q
c.293T>A
2 papers
NM_002351.5
p.L98P
c.293T>C
3 papers
NM_002351.5
p.Q99*
c.295C>T
10 papers
NM_002351.5
p.Q99P
c.296A>C
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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."