Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.Q379*

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.Q379*
c.1135C>T
Surrounding Variants
1 paper
NM_005475.3
p.V378L
c.1132G>C
1 paper
NM_005475.3
p.Q381*
c.1141C>T
2 papers
NM_005475.3
p.Q376*
c.1126C>T
1 paper
NM_005475.3
p.G382R
c.1144G>C
1 paper
NM_005475.3
p.G382D
c.1145G>A
1 paper
NM_005475.3
p.G382A
c.1145G>C
1 paper
NM_005475.3
p.P383delFs
c.1148delC
1 paper
NM_005475.3
p.A375T
c.1123G>A
1 paper
NM_005475.3
p.A375P
c.1123G>C
1 paper
NM_005475.3
p.A374T
c.1120G>A
1 paper
NM_005475.3
p.D384N
c.1150G>A
1 paper
NM_005475.3
p.K373_A374insFs
c.1119_1120insC
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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."