Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R38fs

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.R38fs
c.112_113fs
Surrounding Variants
1 paper
NM_005359.6
p.R38insFs
c.113_114insG
2 papers
NM_005359.6
p.R38G
c.112A>G
1 paper
NM_005359.6
p.R38*
c.112A>T
1 paper
NM_005359.6
p.R38fs
c.112_113fs
2 papers
NM_005359.6
p.R38K
c.113G>A
2 papers
NM_005359.6
p.A39_S42delFs
c.116_125del10
1 paper
NM_005359.6
p.A39P
c.115G>C
1 paper
NM_005359.6
p.A39fs
c.115_116fs
1 paper
NM_005359.6
p.A39E
c.116C>A
1 paper
NM_005359.6
p.A39G
c.116C>G
1 paper
NM_005359.6
p.A39V
c.116C>T
1 paper
NM_005359.6
p.I40delFs
c.118delA
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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."