Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.G131_S134delFs

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.G131_S134delFs
c.391_400del10
Surrounding Variants
2 papers
NM_005475.3
p.P130L
c.389C>T
1 paper
NM_005475.3
p.G131_R140del10
c.391_419del30
1 paper
NM_005475.3
p.P130S
c.388C>T
1 paper
NM_005475.3
p.P129P
c.387G>T
1 paper
NM_005475.3
p.P132S
c.394C>T
1 paper
NM_005475.3
p.P129_P130insGG
c.385_389ins6
1 paper
NM_005475.3
p.P129S
c.385C>T
1 paper
NM_005475.3
p.P132L
c.395C>T
1 paper
NM_005475.3
p.R128P
c.383G>C
2 papers
NM_005475.3
p.C133Y
c.398G>A
1 paper
NM_005475.3
p.C133*
c.399C>A
1 paper
NM_005475.3
p.P127R
c.380C>G
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