Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4

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
1–12 of 2291 variants
277 papers
NM_005359.6
p.R361H
c.1082G>A
211 papers
NM_005359.6
p.R361C
c.1081C>T
89 papers
NM_005359.6
p.I500V
c.1498A>G
87 papers
NM_005359.6
p.R445*
c.1333C>T
66 papers
NM_005359.6
p.R135*
c.403C>T
60 papers
NM_005359.6
p.R496C
c.1486C>T
58 papers
NM_005359.6
p.D351H
c.1051G>C
52 papers
NM_005359.6
p.A118V
c.353C>T
51 papers
NM_005359.6
p.I500T
c.1499T>C
46 papers
NM_005359.6
p.G386D
c.1157G>A
40 papers
NM_005359.6
p.P356L
c.1067C>T
39 papers
NM_005359.6
p.R496H
c.1487G>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."