Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.R562W

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.R562W
c.1684C>T
Surrounding Variants
1 paper
NM_005475.3
p.R562_L565del4
c.1684_1694del12
1 paper
NM_005475.3
p.R562Q
c.1685G>A
1 paper
NM_005475.3
p.R562insFs
c.1684dupC
1 paper
NM_005475.3
p.S560S
c.1680C>T
2 papers
NM_005475.3
p.H564Y
c.1690C>T
1 paper
NM_005475.3
p.S559insFs
c.1677dupA
1 paper
NM_005475.3
p.D558D
c.1674C>T
1 paper
NM_005475.3
p.A567insFs
c.1699dupG
1 paper
NM_005475.3
p.R566fs
c.1696_1697fs
5 papers
NM_005475.3
p.R566W
c.1696C>T
8 papers
NM_005475.3
p.R566Q
c.1697G>A
1 paper
NM_005475.3
p.A567T
c.1699G>A
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