Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.Y54N

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.Y54N
c.160T>A
Surrounding Variants
1 paper
NM_002351.5
p.Y54H
c.160T>C
12 papers
NM_002351.5
p.Y54C
c.161A>G
3 papers
NM_002351.5
p.Y54*
c.162C>A
3 papers
NM_002351.5
p.Y54*
c.162C>G
1 paper
NM_002351.5
p.T53R
c.158C>G
11 papers
NM_002351.5
p.T53I
c.158C>T
53 papers
NM_002351.5
p.R55*
c.163C>T
7 papers
NM_002351.5
p.R55Q
c.164G>A
2 papers
NM_002351.5
p.R55P
c.164G>C
13 papers
NM_002351.5
p.R55L
c.164G>T
1 paper
NM_002351.5
p.V56insFs
c.166dupG
1 paper
NM_002351.5
p.V56fs
c.166_167fs
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