Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R420H

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
5 papers
NM_005359.6
p.R420H
c.1259G>A
Surrounding Variants
1 paper
NM_005359.6
p.R420G
c.1258C>G
4 papers
NM_005359.6
p.R420C
c.1258C>T
1 paper
NM_005359.6
p.A421V
c.1262C>T
1 paper
NM_005359.6
p.P422_I429delFs
c.1264_1285del22
1 paper
NM_005359.6
p.G419E
c.1256G>A
4 papers
NM_005359.6
p.G419V
c.1256G>T
1 paper
NM_005359.6
p.P422insFs
c.1265dupC
11 papers
NM_005359.6
p.G419R
c.1255G>A
11 papers
NM_005359.6
p.G419R
c.1255G>C
10 papers
NM_005359.6
p.G419W
c.1255G>T
1 paper
NM_005359.6
p.P422S
c.1264C>T
1 paper
NM_005359.6
p.P422Fs
c.1264_1265delinsAFs
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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."