Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.K150R

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
4 papers
NM_001387430.1
p.K150R
c.449A>G
Surrounding Variants
1 paper
NM_001387430.1
p.P147L
c.440C>T
1 paper
NM_001387430.1
p.R156C
c.466C>T
1 paper
NM_001387430.1
p.S141F
c.422C>T
1 paper
NM_001387430.1
p.V162L
c.484G>C
1 paper
NM_001387430.1
p.R163fs
c.487_488fs
2 papers
NM_001387430.1
p.R167H
c.500G>A
1 paper
NM_001387430.1
p.L133insFs
c.399dupC
1 paper
NM_001387430.1
p.G131S
c.391G>A
1 paper
NM_001387430.1
p.A130V
c.389C>T
1 paper
NM_001387430.1
p.R173Fs
c.518delinsCGFs
1 paper
NM_001387430.1
p.G174insFs
c.522dupG
1 paper
NM_001387430.1
p.R173fs
c.517_518fs
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