Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.E134Q

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.E134Q
c.400G>C
Surrounding Variants
6 papers
NM_005359.6
p.E134K
c.400G>A
2 papers
NM_005359.6
p.E134*
c.400G>T
1 paper
NM_005359.6
p.E134_R135del1
c.402_404delACG
4 papers
NM_005359.6
p.Y133*
c.399C>A
4 papers
NM_005359.6
p.Y133*
c.399C>G
3 papers
NM_005359.6
p.Y133Y
c.399C>T
1 paper
NM_005359.6
p.E134D
c.402A>C
2 papers
NM_005359.6
p.Y133C
c.398A>G
1 paper
NM_005359.6
p.E134D
c.402A>T
1 paper
NM_005359.6
p.Y133_R135del0
c.399_404del6
1 paper
NM_005359.6
p.R135_V136delFs
c.403_407del5
66 papers
NM_005359.6
p.R135*
c.403C>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."