Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.P640insFs

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.P640insFs
c.1920dupA
Surrounding Variants
1 paper
NM_001387430.1
p.P640L
c.1919C>T
1 paper
NM_001387430.1
p.P641fs
c.1921_1922fs
1 paper
NM_001387430.1
p.P643A
c.1927C>G
1 paper
NM_001387430.1
p.P644S
c.1930C>T
1 paper
NM_001387430.1
p.P644R
c.1931C>G
1 paper
NM_001387430.1
p.P644L
c.1931C>T
1 paper
NM_001387430.1
p.Q654P
c.1961A>C
1 paper
NM_001387430.1
p.A657V
c.1970C>T
12 papers
NM_001387430.1
p.A663V
c.1988C>T
1 paper
NM_001387430.1
p.A667V
c.2000C>T
1 paper
NM_001387430.1
p.A672P
c.2014G>C
1 paper
NM_001387430.1
p.E676K
c.2026G>A
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