Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.H55N

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.H55N
c.163C>A
Surrounding Variants
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.H55H
c.165C>T
1 paper
NM_005475.3
p.A56G
c.167C>G
1 paper
NM_005475.3
p.P57fs
c.169_170fs
1 paper
NM_005475.3
p.P57S
c.169C>T
1 paper
NM_005475.3
p.L58_R59delFs
c.173_177del5
1 paper
NM_005475.3
p.P57L
c.170C>T
1 paper
NM_005475.3
p.H52Q
c.156T>A
1 paper
NM_005475.3
p.H52Q
c.156T>G
1 paper
NM_005475.3
p.R59C
c.175C>T
1 paper
NM_005475.3
p.E51*
c.151G>T
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