Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.G238C

SH2B1

195 papers

RefSeq Summary

This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling a...

Pfam Domains

Phe_ZIPaa 25–81UCSCPhenylalanine zipper
PHaa 275–376UCSCPH domain
SH2aa 527–604UCSCSH2 domain

Gene Aliases

HGNC Name

SH2B adaptor protein 1

HGNC Alias Symbol

FLJ30542

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001387430.1
p.G238C
c.712G>T
Surrounding Variants
2 papers
NM_001387430.1
p.G243R
c.727G>A
2 papers
NM_001387430.1
p.G243R
c.727G>C
1 paper
NM_001387430.1
p.M246_E250delFs
c.737_749del13
1 paper
NM_001387430.1
p.R230G
c.688A>G
1 paper
NM_001387430.1
p.M246fs
c.736_737fs
3 papers
NM_001387430.1
p.R227C
c.679C>T
2 papers
NM_001387430.1
p.E250G
c.749A>G
1 paper
NM_001387430.1
p.W224C
c.672G>T
3 papers
NM_001387430.1
p.V209I
c.625G>A
1 paper
NM_001387430.1
p.G269D
c.806G>A
1 paper
NM_001387430.1
p.G269V
c.806G>T
4 papers
NM_001387430.1
p.R270W
c.808C>T
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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."