Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.L25P

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.L25P
c.74T>C
Surrounding Variants
3 papers
NM_002351.5
p.G24_V37delins
c.72_109delinsCAAATAGC
1 paper
NM_002351.5
p.D26V
c.77A>T
1 paper
NM_002351.5
p.G24E
c.71G>A
2 papers
NM_002351.5
p.G24R
c.70G>A
14 papers
NM_002351.5
p.G27S
c.79G>A
3 papers
NM_002351.5
p.G27D
c.80G>A
1 paper
NM_002351.5
p.G27G
c.81C>A
19 papers
NM_002351.5
p.S28R
c.82A>C
1 paper
NM_002351.5
p.T23_S28delFs
c.67_83del17
2 papers
NM_002351.5
p.S28N
c.83G>A
20 papers
NM_002351.5
p.S28R
c.84C>A
20 papers
NM_002351.5
p.S28R
c.84C>G
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