Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.E259insFs

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.E259insFs
c.776dupA
Surrounding Variants
2 papers
NM_005475.3
p.E259K
c.775G>A
1 paper
NM_005475.3
p.E259*
c.775G>T
1 paper
NM_005475.3
p.V260insFs
c.778dupG
3 papers
NM_005475.3
p.Q258*
c.772C>T
1 paper
NM_005475.3
p.V260fs
c.778_779fs
1 paper
NM_005475.3
p.R261insFs
c.781dupC
6 papers
NM_005475.3
p.I257T
c.770T>C
2 papers
NM_005475.3
p.R261W
c.781C>T
1 paper
NM_005475.3
p.S256R
c.768C>A
1 paper
NM_005475.3
p.S256R
c.768C>G
1 paper
NM_005475.3
p.S256S
c.768C>T
1 paper
NM_005475.3
p.R261Q
c.782G>A
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