Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3

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
1–12 of 966 variants
74 papers
NM_005475.3
p.W262R
c.784T>C
62 papers
NM_005475.3
p.W262R
c.784T>A
58 papers
NM_005475.3
p.E208Q
c.622G>C
24 papers
NM_005475.3
p.E400K
c.1198G>A
21 papers
NM_005475.3
p.I568T
c.1703T>C
19 papers
NM_005475.3
p.S213R
c.637A>C
19 papers
NM_005475.3
p.S213R
c.639C>A
19 papers
NM_005475.3
p.S213R
c.639C>G
18 papers
NM_005475.3
p.S186I
c.557G>T
15 papers
NM_005475.3
p.E78K
c.232G>A
15 papers
NM_005475.3
p.P242S
c.724C>T
14 papers
NM_005475.3
p.E208*
c.622G>T
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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."