Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.H67H

SMAD4

2,432 papers

RefSeq Summary

This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transfor...

Pfam Domains

MH1aa 36–137UCSCMH1 domain
MH2aa 321–530UCSCMH2 domain

Gene Aliases

HGNC Name

SMAD family member 4

HGNC Previous Symbol

MADH4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005359.6
p.H67H
c.201T>C
Surrounding Variants
1 paper
NM_005359.6
p.H67_P68insFs
c.201_202insG
1 paper
NM_005359.6
p.H67L
c.200A>T
2 papers
NM_005359.6
p.P68A
c.202C>G
1 paper
NM_005359.6
p.P68S
c.202C>T
3 papers
NM_005359.6
p.H67Y
c.199C>T
1 paper
NM_005359.6
p.P68P
c.204T>C
1 paper
NM_005359.6
p.S69R
c.205A>C
2 papers
NM_005359.6
p.S69N
c.206G>A
1 paper
NM_005359.6
p.G65G
c.195A>C
1 paper
NM_005359.6
p.K70*
c.208A>T
1 paper
NM_005359.6
p.G65A
c.194G>C
12 papers
NM_005359.6
p.G65V
c.194G>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."