Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.A418P

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.A418P
c.1252G>C
Surrounding Variants
1 paper
NM_005359.6
p.A418T
c.1252G>A
1 paper
NM_005359.6
p.A418V
c.1253C>T
11 papers
NM_005359.6
p.G419R
c.1255G>A
1 paper
NM_005359.6
p.E417K
c.1249G>A
11 papers
NM_005359.6
p.G419R
c.1255G>C
1 paper
NM_005359.6
p.E417fs
c.1249_1250fs
10 papers
NM_005359.6
p.G419W
c.1255G>T
3 papers
NM_005359.6
p.E417*
c.1249G>T
1 paper
NM_005359.6
p.E417fs
c.1249_1250fs
1 paper
NM_005359.6
p.R416S
c.1248A>C
1 paper
NM_005359.6
p.R416R
c.1248A>G
1 paper
NM_005359.6
p.G419E
c.1256G>A
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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."