Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.E514Q

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.E514Q
c.1540G>C
Surrounding Variants
2 papers
NM_001387430.1
p.G516S
c.1546G>A
1 paper
NM_001387430.1
p.E512fs
c.1534_1535fs
1 paper
NM_001387430.1
p.Y525F
c.1574A>T
1 paper
NM_001387430.1
p.G545S
c.1633G>A
5 papers
NM_001387430.1
p.T546A
c.1636A>G
1 paper
NM_001387430.1
p.R555C
c.1663C>T
1 paper
NM_001387430.1
p.Y564F
c.1691A>T
2 papers
NM_001387430.1
p.Y494F
c.1481A>T
1 paper
NM_001387430.1
p.A492V
c.1475C>T
21 papers
NM_001387430.1
p.T484A
c.1450A>G
1 paper
NM_001387430.1
p.E480Q
c.1438G>C
1 paper
NM_001387430.1
p.R475fs
c.1423_1424fs
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."