Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.S65T

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.S65T
c.193T>A
Surrounding Variants
1 paper
NM_001387430.1
p.R66H
c.197G>A
3 papers
NM_001387430.1
p.R67C
c.199C>T
2 papers
NM_001387430.1
p.R67H
c.200G>A
1 paper
NM_001387430.1
p.A69T
c.205G>A
1 paper
NM_001387430.1
p.A69S
c.205G>T
1 paper
NM_001387430.1
p.G59R
c.175G>A
1 paper
NM_001387430.1
p.G59R
c.175G>C
2 papers
NM_001387430.1
p.G59W
c.175G>T
1 paper
NM_001387430.1
p.Y55F
c.164A>T
1 paper
NM_001387430.1
p.P53L
c.158C>T
1 paper
NM_001387430.1
p.V80L
c.238G>C
1 paper
NM_001387430.1
p.Y48F
c.143A>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."