Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.R43insFs

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.R43insFs
c.127dupC
Surrounding Variants
2 papers
NM_005475.3
p.A42P
c.124G>C
1 paper
NM_005475.3
p.A42G
c.125C>G
1 paper
NM_005475.3
p.L41P
c.122T>C
1 paper
NM_005475.3
p.R43fs
c.127_128fs
10 papers
NM_005475.3
p.R43C
c.127C>T
1 paper
NM_005475.3
p.R43fs
c.127_128fs
1 paper
NM_005475.3
p.R43H
c.128G>A
1 paper
NM_005475.3
p.R43_Q44insFs
c.129_130insGG
1 paper
NM_005475.3
p.Q44*
c.130C>T
1 paper
NM_005475.3
p.Q44_L47delFs
c.131_140del10
1 paper
NM_005475.3
p.E40K
c.118G>A
1 paper
NM_005475.3
p.R39R
c.117G>A
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