Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R100del1

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.R100del1
c.298_299delAGG
Surrounding Variants
2 papers
NM_005359.6
p.W99R
c.295T>A
2 papers
NM_005359.6
p.W99R
c.295T>C
1 paper
NM_005359.6
p.W99G
c.295T>G
6 papers
NM_005359.6
p.W99*
c.296G>A
6 papers
NM_005359.6
p.W99*
c.297G>A
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.L98_W99delFs
c.294_297del4
1 paper
NM_005359.6
p.R100G
c.298A>G
2 papers
NM_005359.6
p.R100W
c.298A>T
1 paper
NM_005359.6
p.L98insFs
c.293dupT
2 papers
NM_005359.6
p.L98F
c.292C>T
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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."