Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1

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
1–12 of 189 variants
21 papers
NM_001387430.1
p.T484A
c.1450A>G
12 papers
NM_001387430.1
p.P90H
c.269C>A
12 papers
NM_001387430.1
p.A663V
c.1988C>T
7 papers
NM_001387430.1
p.P322S
c.964C>T
5 papers
NM_001387430.1
p.T175N
c.524C>A
5 papers
NM_001387430.1
p.T546A
c.1636A>G
5 papers
NM_001387430.1
p.S616P
c.1846T>C
4 papers
NM_001387430.1
p.K150R
c.449A>G
4 papers
NM_001387430.1
p.R270W
c.808C>T
3 papers
NM_001387430.1
p.R43S
c.127C>A
3 papers
NM_001387430.1
p.R44C
c.130C>T
3 papers
NM_001387430.1
p.R67C
c.199C>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."