Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.H132P

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.H132P
c.395A>C
Surrounding Variants
2 papers
NM_005359.6
p.H132L
c.395A>T
3 papers
NM_005359.6
p.H132Q
c.396C>A
2 papers
NM_005359.6
p.H132N
c.394C>A
1 paper
NM_005359.6
p.H132insFs
c.395dupA
3 papers
NM_005359.6
p.H132Q
c.396C>G
1 paper
NM_005359.6
p.H132D
c.394C>G
13 papers
NM_005359.6
p.H132Y
c.394C>T
3 papers
NM_005359.6
p.Y131C
c.392A>G
2 papers
NM_005359.6
p.Y133C
c.398A>G
1 paper
NM_005359.6
p.Y131F
c.392A>T
1 paper
NM_005359.6
p.Y133_R135del0
c.399_404del6
4 papers
NM_005359.6
p.Y133*
c.399C>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."