Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.N82delFs

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.N82delFs
c.245delA
Surrounding Variants
1 paper
NM_002351.5
p.I80R
c.239T>G
6 papers
NM_002351.5
p.N82insFs
c.245dupA
1 paper
NM_002351.5
p.I80fs
c.238_239fs
1 paper
NM_002351.5
p.K81fs
c.241_242fs
1 paper
NM_002351.5
p.N82fs
c.244_245fs
3 papers
NM_002351.5
p.N82fs
c.244_245fs
1 paper
NM_002351.5
p.R78W
c.232C>T
1 paper
NM_002351.5
p.N82_L83insFs
c.246_247insA
1 paper
NM_002351.5
p.L83V
c.247C>G
1 paper
NM_002351.5
p.L83F
c.247C>T
2 papers
NM_002351.5
p.I84_S85delFs
c.251_255del5
1 paper
NM_002351.5
p.I84fs
c.250_251fs
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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."