Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.G116Splc

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.G116Splc
c.346+5G>C
Surrounding Variants
2 papers
NM_002351.5
p.G116Splc
c.346+3A>G
1 paper
NM_002351.5
p.G116Splc
c.346+2T>C
1 paper
NM_002351.5
p.G116Splc
c.346+1G>A
1 paper
NM_002351.5
p.T115_G116insG
c.343_347ins3
1 paper
NM_002351.5
p.A108V
c.323C>T
1 paper
NM_002351.5
p.S107S
c.321A>G
4 papers
NM_002351.5
p.S106S
c.318C>T
1 paper
NM_002351.5
p.S106insFs
c.316dupT
1 paper
NM_002351.5
p.K104_K105insFs
c.312_313insG
1 paper
NM_002351.5
p.E103delFs
c.307delG
10 papers
NM_002351.5
p.V102G
c.305T>G
1 paper
NM_002351.5
p.V102insFs
c.306dupT
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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."