Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.R397Q

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
3 papers
NM_005475.3
p.R397Q
c.1190G>A
Surrounding Variants
2 papers
NM_005475.3
p.R397fs
c.1189_1190fs
3 papers
NM_005475.3
p.R397G
c.1189C>G
2 papers
NM_005475.3
p.R397W
c.1189C>T
1 paper
NM_005475.3
p.R398fs
c.1192_1193fs
3 papers
NM_005475.3
p.R398C
c.1192C>T
1 paper
NM_005475.3
p.T396T
c.1188G>A
1 paper
NM_005475.3
p.T396_R397insFs
c.1188_1189ins5
1 paper
NM_005475.3
p.T396M
c.1187C>T
1 paper
NM_005475.3
p.T396delFs
c.1188delG
1 paper
NM_005475.3
p.E400insFs
c.1198_1199insG
14 papers
NM_005475.3
p.E395K
c.1183G>A
1 paper
NM_005475.3
p.G399G
c.1197G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."