Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.Q136delFs

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.Q136delFs
c.406delC
Surrounding Variants
3 papers
NM_005475.3
p.Q136*
c.406C>T
1 paper
NM_005475.3
p.S134F
c.401C>T
1 paper
NM_005475.3
p.C133_F135Fs
c.399_403delinsCCTACTFs
1 paper
NM_005475.3
p.C133*
c.399C>A
1 paper
NM_005475.3
p.H137fs
c.409_410fs
1 paper
NM_005475.3
p.H137R
c.410A>G
2 papers
NM_005475.3
p.C133Y
c.398G>A
1 paper
NM_005475.3
p.P132L
c.395C>T
1 paper
NM_005475.3
p.P132S
c.394C>T
1 paper
NM_005475.3
p.R139_R140insFs
c.415_418dup4
1 paper
NM_005475.3
p.R139H
c.416G>A
1 paper
NM_005475.3
p.G131_S134delFs
c.391_400del10
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