Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.R46H

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.R46H
c.137G>A
Surrounding Variants
1 paper
NM_001387430.1
p.Y48F
c.143A>T
3 papers
NM_001387430.1
p.R44C
c.130C>T
3 papers
NM_001387430.1
p.R43S
c.127C>A
1 paper
NM_001387430.1
p.F41_A42ins4
c.121_125ins12
1 paper
NM_001387430.1
p.P53L
c.158C>T
1 paper
NM_001387430.1
p.Y55F
c.164A>T
1 paper
NM_001387430.1
p.A34delFs
c.101_102delCC
1 paper
NM_001387430.1
p.G59R
c.175G>A
1 paper
NM_001387430.1
p.G59R
c.175G>C
2 papers
NM_001387430.1
p.G59W
c.175G>T
1 paper
NM_001387430.1
p.S32S
c.96C>T
1 paper
NM_001387430.1
p.E31V
c.92A>T
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