Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1B

SH2D1B

20 papers

RefSeq Summary

By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra ...

Pfam Domains

SH2aa 5–86UCSCSH2 domain

Gene Aliases

HGNC Name

SH2 domain containing 1B

HGNC Alias Symbol

EAT2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
3 papers
NM_053282.5
p.N122K
c.366C>G
3 papers
NM_053282.5
p.N122K
c.366C>A
1 paper
NM_053282.5
p.R9C
c.25C>T
1 paper
NM_053282.5
p.G26D
c.77G>A
1 paper
NM_053282.5
p.L29I
c.85C>A
1 paper
NM_053282.5
p.L30S
c.89T>C
1 paper
NM_053282.5
p.D32G
c.95A>G
1 paper
NM_053282.5
p.E34K
c.100G>A
1 paper
NM_053282.5
p.I36T
c.107T>C
1 paper
NM_053282.5
p.L40L
c.118C>T
1 paper
NM_053282.5
p.C41R
c.121T>C
1 paper
NM_053282.5
p.S45L
c.134C>T
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