Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R100G

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.R100G
c.298A>G
Surrounding Variants
2 papers
NM_005359.6
p.R100W
c.298A>T
6 papers
NM_005359.6
p.W99*
c.297G>A
36 papers
NM_005359.6
p.R100T
c.299G>C
3 papers
NM_005359.6
p.W99C
c.297G>C
3 papers
NM_005359.6
p.W99C
c.297G>T
1 paper
NM_005359.6
p.R100M
c.299G>T
6 papers
NM_005359.6
p.W99*
c.296G>A
1 paper
NM_005359.6
p.R100S
c.300G>C
1 paper
NM_005359.6
p.R100S
c.300G>T
2 papers
NM_005359.6
p.W99R
c.295T>A
1 paper
NM_005359.6
p.W101R
c.301T>A
2 papers
NM_005359.6
p.W99R
c.295T>C
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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."