Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.F344fs

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.F344fs
c.1030_1031fs
Surrounding Variants
3 papers
NM_001387430.1
p.F344fs
c.1030_1031fs
2 papers
NM_001387430.1
p.T343M
c.1028C>T
1 paper
NM_001387430.1
p.V345M
c.1033G>A
1 paper
NM_001387430.1
p.P338L
c.1013C>T
1 paper
NM_001387430.1
p.R330W
c.988C>T
2 papers
NM_001387430.1
p.I326V
c.976A>G
1 paper
NM_001387430.1
p.S325T
c.973T>A
7 papers
NM_001387430.1
p.P322S
c.964C>T
1 paper
NM_001387430.1
p.R316R
c.946C>A
1 paper
NM_001387430.1
p.R316W
c.946C>T
3 papers
NM_001387430.1
p.E299G
c.896A>G
1 paper
NM_001387430.1
p.G303del1
c.907_908delGGA
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."