Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.Q72H

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
2 papers
NM_005475.3
p.Q72H
c.216G>T
Surrounding Variants
2 papers
NM_005475.3
p.Q72H
c.216G>C
1 paper
NM_005475.3
p.R73C
c.217C>T
4 papers
NM_005475.3
p.Q72fs
c.214_215fs
1 paper
NM_005475.3
p.Q72*
c.214C>T
1 paper
NM_005475.3
p.R73H
c.218G>A
1 paper
NM_005475.3
p.F71L
c.213C>A
1 paper
NM_005475.3
p.R73R
c.219C>A
1 paper
NM_005475.3
p.F71L
c.213C>G
1 paper
NM_005475.3
p.F71Y
c.212T>A
1 paper
NM_005475.3
p.F71S
c.212T>C
1 paper
NM_005475.3
p.F71L
c.211T>C
1 paper
NM_005475.3
p.D69G
c.206A>G
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