Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.R82P

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.R82P
c.245G>C
Surrounding Variants
1 paper
NM_001387430.1
p.V80L
c.238G>C
12 papers
NM_001387430.1
p.P90H
c.269C>A
1 paper
NM_001387430.1
p.A69T
c.205G>A
1 paper
NM_001387430.1
p.A69S
c.205G>T
2 papers
NM_001387430.1
p.R67H
c.200G>A
3 papers
NM_001387430.1
p.R67C
c.199C>T
1 paper
NM_001387430.1
p.R66H
c.197G>A
1 paper
NM_001387430.1
p.G98_I101Fs
c.293_301delinsACFs
2 papers
NM_001387430.1
p.A99V
c.296C>T
1 paper
NM_001387430.1
p.S65T
c.193T>A
1 paper
NM_001387430.1
p.I101_S102del2
c.301_305del6
1 paper
NM_001387430.1
p.G59R
c.175G>A
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