Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.E299_G301del0

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.E299_G301del0
c.896_901del6
Surrounding Variants
3 papers
NM_001387430.1
p.E299G
c.896A>G
1 paper
NM_001387430.1
p.G303del1
c.907_908delGGA
1 paper
NM_001387430.1
p.L293R
c.878T>G
1 paper
NM_001387430.1
p.P285R
c.854C>G
1 paper
NM_001387430.1
p.P277P
c.831T>A
1 paper
NM_001387430.1
p.P277L
c.830C>T
1 paper
NM_001387430.1
p.G276A
c.827G>C
1 paper
NM_001387430.1
p.V274M
c.820G>A
2 papers
NM_001387430.1
p.R270Q
c.809G>A
4 papers
NM_001387430.1
p.R270W
c.808C>T
1 paper
NM_001387430.1
p.G269D
c.806G>A
1 paper
NM_001387430.1
p.G269V
c.806G>T
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