Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.D231N

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
4 papers
NM_005475.3
p.D231N
c.691G>A
Surrounding Variants
1 paper
NM_005475.3
p.D231H
c.691G>C
2 papers
NM_005475.3
p.D231fs
c.691_692fs
2 papers
NM_005475.3
p.D231Y
c.691G>T
3 papers
NM_005475.3
p.D231fs
c.691_692fs
1 paper
NM_005475.3
p.D231A
c.692A>C
1 paper
NM_005475.3
p.D231G
c.692A>G
1 paper
NM_005475.3
p.P230P
c.690C>T
1 paper
NM_005475.3
p.P230A
c.688C>G
2 papers
NM_005475.3
p.P230S
c.688C>T
1 paper
NM_005475.3
p.G232R
c.694G>C
6 papers
NM_005475.3
p.G229S
c.685G>A
1 paper
NM_005475.3
p.P233L
c.698C>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."