Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.E208Q

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
58 papers
NM_005475.3
p.E208Q
c.622G>C
Surrounding Variants
14 papers
NM_005475.3
p.E208*
c.622G>T
1 paper
NM_005475.3
p.E208G
c.623A>G
1 paper
NM_005475.3
p.D207E
c.621C>A
1 paper
NM_005475.3
p.D207E
c.621C>G
3 papers
NM_005475.3
p.E208E
c.624G>A
2 papers
NM_005475.3
p.D207N
c.619G>A
3 papers
NM_005475.3
p.A209V
c.626C>T
1 paper
NM_005475.3
p.L205Q
c.614T>A
1 paper
NM_005475.3
p.M211fs
c.631_632fs
1 paper
NM_005475.3
p.M211V
c.631A>G
8 papers
NM_005475.3
p.L205V
c.613C>G
2 papers
NM_005475.3
p.L205L
c.613C>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."