Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R445*

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
87 papers
NM_005359.6
p.R445*
c.1333C>T
Surrounding Variants
2 papers
NM_005359.6
p.R445Q
c.1334G>A
1 paper
NM_005359.6
p.H444R
c.1331A>G
1 paper
NM_005359.6
p.R445R
c.1335A>G
2 papers
NM_005359.6
p.H444L
c.1331A>T
1 paper
NM_005359.6
p.Q446fs
c.1336_1337fs
2 papers
NM_005359.6
p.Q446*
c.1336C>T
1 paper
NM_005359.6
p.H444Y
c.1330C>T
1 paper
NM_005359.6
p.C443*
c.1329T>A
1 paper
NM_005359.6
p.C443Y
c.1328G>A
1 paper
NM_005359.6
p.C443S
c.1328G>C
2 papers
NM_005359.6
p.M447fs
c.1339_1340fs
1 paper
NM_005359.6
p.Q450_A459insFs
c.1349_1376dup28
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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."