Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.M1_N2insFs

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.M1_N2insFs
c.3_4insT
Surrounding Variants
3 papers
NM_005475.3
p.M1I
c.3G>A
2 papers
NM_005475.3
p.M1I
c.3G>C
1 paper
NM_005475.3
p.M1_N2insFs
c.3_4insA
2 papers
NM_005475.3
p.M1I
c.3G>T
1 paper
NM_005475.3
p.M1_N2ins2
c.3_4ins6
1 paper
NM_005475.3
p.M1insFs
c.1_2ins44
1 paper
NM_005475.3
p.M1insFs
c.2_3insT
1 paper
NM_005475.3
p.N2T
c.5A>C
2 papers
NM_005475.3
p.M1V
c.1A>G
1 paper
NM_005475.3
p.N2N
c.6C>T
1 paper
NM_005475.3
p.G3R
c.7G>A
1 paper
NM_005475.3
p.G3R
c.7G>C
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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."