Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.W364C

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.W364C
c.1092G>T
Surrounding Variants
4 papers
NM_005475.3
p.W364*
c.1092G>A
1 paper
NM_005475.3
p.W364C
c.1092G>C
3 papers
NM_005475.3
p.W364*
c.1091G>A
1 paper
NM_005475.3
p.W364S
c.1091G>C
1 paper
NM_005475.3
p.F365V
c.1093T>G
2 papers
NM_005475.3
p.W364R
c.1090T>A
2 papers
NM_005475.3
p.W364R
c.1090T>C
1 paper
NM_005475.3
p.P363R
c.1088C>G
2 papers
NM_005475.3
p.P363L
c.1088C>T
1 paper
NM_005475.3
p.H366R
c.1097A>G
1 paper
NM_005475.3
p.P363S
c.1087C>T
2 papers
NM_005475.3
p.H366Q
c.1098C>A
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