Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.R173Fs

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.R173Fs
c.518delinsCGFs
Surrounding Variants
1 paper
NM_001387430.1
p.G174insFs
c.522dupG
1 paper
NM_001387430.1
p.R173fs
c.517_518fs
1 paper
NM_001387430.1
p.T175fs
c.523_524fs
1 paper
NM_001387430.1
p.T175A
c.523A>G
5 papers
NM_001387430.1
p.T175N
c.524C>A
2 papers
NM_001387430.1
p.R167H
c.500G>A
1 paper
NM_001387430.1
p.S180F
c.539C>T
1 paper
NM_001387430.1
p.R163fs
c.487_488fs
3 papers
NM_001387430.1
p.A182A
c.546T>A
1 paper
NM_001387430.1
p.V162L
c.484G>C
1 paper
NM_001387430.1
p.L185Q
c.554T>A
2 papers
NM_001387430.1
p.S188L
c.563C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."