Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.R475fs

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.R475fs
c.1423_1424fs
Surrounding Variants
1 paper
NM_001387430.1
p.E480Q
c.1438G>C
21 papers
NM_001387430.1
p.T484A
c.1450A>G
3 papers
NM_001387430.1
p.M465T
c.1394T>C
1 paper
NM_001387430.1
p.A492V
c.1475C>T
2 papers
NM_001387430.1
p.Y494F
c.1481A>T
1 paper
NM_001387430.1
p.P446L
c.1337C>T
2 papers
NM_001387430.1
p.Y439F
c.1316A>T
1 paper
NM_001387430.1
p.E512fs
c.1534_1535fs
1 paper
NM_001387430.1
p.E514Q
c.1540G>C
2 papers
NM_001387430.1
p.G516S
c.1546G>A
1 paper
NM_001387430.1
p.Y525F
c.1574A>T
1 paper
NM_001387430.1
p.G545S
c.1633G>A
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