Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.L30S

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.L30S
c.89T>C
Surrounding Variants
2 papers
NM_002351.5
p.L31insFs
c.91_92insT
1 paper
NM_002351.5
p.L31delFs
c.92delT
1 paper
NM_002351.5
p.L31fs
c.91_92fs
2 papers
NM_002351.5
p.Y29C
c.86A>G
10 papers
NM_002351.5
p.L31P
c.92T>C
1 paper
NM_002351.5
p.Y29H
c.85T>C
1 paper
NM_002351.5
p.R32W
c.94A>T
20 papers
NM_002351.5
p.S28R
c.84C>A
20 papers
NM_002351.5
p.S28R
c.84C>G
2 papers
NM_002351.5
p.S28N
c.83G>A
2 papers
NM_002351.5
p.R32K
c.95G>A
16 papers
NM_002351.5
p.R32T
c.95G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."