Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.C254R

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.C254R
c.760T>C
Surrounding Variants
1 paper
NM_005475.3
p.C254G
c.760T>G
1 paper
NM_005475.3
p.C254C
c.762C>T
1 paper
NM_005475.3
p.S255_Q258delFs
c.763_773del11
1 paper
NM_005475.3
p.A253fs
c.757_758fs
1 paper
NM_005475.3
p.S255insFs
c.765dupC
1 paper
NM_005475.3
p.S255fs
c.763_764fs
1 paper
NM_005475.3
p.A252G
c.755C>G
2 papers
NM_005475.3
p.S255S
c.765C>T
1 paper
NM_005475.3
p.S256R
c.766A>C
1 paper
NM_005475.3
p.Q251L
c.752A>T
1 paper
NM_005475.3
p.S256R
c.768C>A
1 paper
NM_005475.3
p.S256R
c.768C>G
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