Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q83*

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
7 papers
NM_005359.6
p.Q83*
c.247C>T
Surrounding Variants
1 paper
NM_005359.6
p.L82L
c.246T>C
2 papers
NM_005359.6
p.Q83H
c.249G>C
2 papers
NM_005359.6
p.Q83H
c.249G>T
1 paper
NM_005359.6
p.L82H
c.245T>A
1 paper
NM_005359.6
p.L82P
c.245T>C
1 paper
NM_005359.6
p.L82I
c.244C>A
1 paper
NM_005359.6
p.L82insFs
c.244_245insT
2 papers
NM_005359.6
p.R81R
c.243G>A
2 papers
NM_005359.6
p.R81K
c.242G>A
1 paper
NM_005359.6
p.R81G
c.241A>G
1 paper
NM_005359.6
p.R81delFs
c.243delG
1 paper
NM_005359.6
p.G80E
c.239G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."