Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.R50L

SH2B3

633 papers

RefSeq Summary

This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative ...

Pfam Domains

Phe_ZIPaa 25–80UCSCPhenylalanine zipper
SH2aa 364–441UCSCSH2 domain

Gene Aliases

HGNC Name

SH2B adaptor protein 3

HGNC Alias Symbols

LNK; IDDM20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005475.3
p.R50L
c.149G>T
Surrounding Variants
1 paper
NM_005475.3
p.R50W
c.148C>T
1 paper
NM_005475.3
p.E51*
c.151G>T
2 papers
NM_005475.3
p.A49T
c.145G>A
1 paper
NM_005475.3
p.F48delFs
c.144delC
1 paper
NM_005475.3
p.H52Q
c.156T>A
1 paper
NM_005475.3
p.H52Q
c.156T>G
5 papers
NM_005475.3
p.Q54P
c.161A>C
1 paper
NM_005475.3
p.Q54R
c.161A>G
1 paper
NM_005475.3
p.H55N
c.163C>A
1 paper
NM_005475.3
p.H55H
c.165C>T
1 paper
NM_005475.3
p.A56G
c.167C>G
1 paper
NM_005475.3
p.Q44*
c.130C>T
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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."