Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.L31delFs

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.L31delFs
c.92delT
Surrounding Variants
2 papers
NM_002351.5
p.L31insFs
c.91_92insT
1 paper
NM_002351.5
p.L31fs
c.91_92fs
10 papers
NM_002351.5
p.L31P
c.92T>C
1 paper
NM_002351.5
p.L30S
c.89T>C
1 paper
NM_002351.5
p.R32W
c.94A>T
2 papers
NM_002351.5
p.R32K
c.95G>A
16 papers
NM_002351.5
p.R32T
c.95G>C
2 papers
NM_002351.5
p.Y29C
c.86A>G
3 papers
NM_002351.5
p.R32S
c.96G>C
1 paper
NM_002351.5
p.R32S
c.96G>T
1 paper
NM_002351.5
p.D33H
c.97G>C
11 papers
NM_002351.5
p.D33Y
c.97G>T
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