Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.R219R

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.R219R
c.657C>T
Surrounding Variants
9 papers
NM_005475.3
p.G220R
c.658G>A
3 papers
NM_005475.3
p.R219H
c.656G>A
9 papers
NM_005475.3
p.G220R
c.658G>C
1 paper
NM_005475.3
p.G220W
c.658G>T
1 paper
NM_005475.3
p.R219C
c.655C>T
7 papers
NM_005475.3
p.G220V
c.659G>T
1 paper
NM_005475.3
p.R221delFs
c.661delA
1 paper
NM_005475.3
p.R221G
c.661A>G
1 paper
NM_005475.3
p.Q218*
c.652C>T
2 papers
NM_005475.3
p.W217*
c.651G>A
1 paper
NM_005475.3
p.L222V
c.664C>G
2 papers
NM_005475.3
p.W217*
c.650G>A
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