Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.A96delFs

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.A96delFs
c.287_288delCC
Surrounding Variants
1 paper
NM_005359.6
p.A96insFs
c.287dupC
1 paper
NM_005359.6
p.A96fs
c.286_287fs
1 paper
NM_005359.6
p.A96D
c.287C>A
4 papers
NM_005359.6
p.Y95*
c.285T>A
4 papers
NM_005359.6
p.Y95*
c.285T>G
1 paper
NM_005359.6
p.Y95S
c.284A>C
2 papers
NM_005359.6
p.Y95C
c.284A>G
1 paper
NM_005359.6
p.Y95F
c.284A>T
1 paper
NM_005359.6
p.R97S
c.289C>A
2 papers
NM_005359.6
p.R97C
c.289C>T
3 papers
NM_005359.6
p.Y95N
c.283T>A
2 papers
NM_005359.6
p.Y95H
c.283T>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."