Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.D599N

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.D599N
c.1795G>A
Surrounding Variants
1 paper
NM_001387430.1
p.D599_V606del0
c.1795_1818del24
1 paper
NM_001387430.1
p.S596C
c.1787C>G
1 paper
NM_001387430.1
p.E602V
c.1805A>T
1 paper
NM_001387430.1
p.H607R
c.1820A>G
1 paper
NM_001387430.1
p.P608L
c.1823C>T
1 paper
NM_001387430.1
p.P610S
c.1828C>T
1 paper
NM_001387430.1
p.C587F
c.1760G>T
2 papers
NM_001387430.1
p.S613L
c.1838C>T
1 paper
NM_001387430.1
p.E584A
c.1751A>C
1 paper
NM_001387430.1
p.E583A
c.1748A>C
5 papers
NM_001387430.1
p.S616P
c.1846T>C
1 paper
NM_001387430.1
p.V619_V620del1
c.1857_1859delTGT
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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."