Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.G387R

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.G387R
c.1159G>C
Surrounding Variants
1 paper
NM_005475.3
p.G387R
c.1159G>A
1 paper
NM_005475.3
p.G387*
c.1159G>T
1 paper
NM_005475.3
p.G387E
c.1160G>A
1 paper
NM_005475.3
p.G387A
c.1160G>C
1 paper
NM_005475.3
p.H386H
c.1158T>C
1 paper
NM_005475.3
p.G387insFs
c.1160dupG
1 paper
NM_005475.3
p.A385P
c.1153G>C
2 papers
NM_005475.3
p.A385insFs
c.1154_1155ins5
2 papers
NM_005475.3
p.F389L
c.1165T>C
1 paper
NM_005475.3
p.F389fs
c.1165_1166fs
1 paper
NM_005475.3
p.F389S
c.1166T>C
1 paper
NM_005475.3
p.F389C
c.1166T>G
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