Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.W217R

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.W217R
c.649T>C
Surrounding Variants
1 paper
NM_005475.3
p.W217R
c.649T>A
1 paper
NM_005475.3
p.W217_G220delins
c.649_658delinsGCGT
2 papers
NM_005475.3
p.W217*
c.650G>A
2 papers
NM_005475.3
p.W217*
c.651G>A
1 paper
NM_005475.3
p.R216fs
c.646_647fs
1 paper
NM_005475.3
p.R216C
c.646C>T
1 paper
NM_005475.3
p.Q218*
c.652C>T
1 paper
NM_005475.3
p.A215E
c.644C>A
13 papers
NM_005475.3
p.A215V
c.644C>T
1 paper
NM_005475.3
p.R219C
c.655C>T
1 paper
NM_005475.3
p.A215fs
c.643_644fs
3 papers
NM_005475.3
p.R219H
c.656G>A
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