Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.P173delFs

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.P173delFs
c.519delC
Surrounding Variants
1 paper
NM_005475.3
p.P173insFs
c.519dupC
1 paper
NM_005475.3
p.T172A
c.514A>G
2 papers
NM_005475.3
p.T172N
c.515C>A
1 paper
NM_005475.3
p.T172T
c.516C>T
1 paper
NM_005475.3
p.E171*
c.511G>T
1 paper
NM_005475.3
p.E171insFs
c.511_512ins4
1 paper
NM_005475.3
p.R175delFs
c.523delC
1 paper
NM_005475.3
p.A174fs
c.520_521fs
1 paper
NM_005475.3
p.A174D
c.521C>A
1 paper
NM_005475.3
p.R175W
c.523C>T
1 paper
NM_005475.3
p.A169T
c.505G>A
2 papers
NM_005475.3
p.R175Q
c.524G>A
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