Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q224L

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.Q224L
c.671A>T
Surrounding Variants
1 paper
NM_005359.6
p.Q224P
c.671A>C
1 paper
NM_005359.6
p.Q224K
c.670C>A
10 papers
NM_005359.6
p.Q224*
c.670C>T
1 paper
NM_005359.6
p.S223I
c.668G>T
1 paper
NM_005359.6
p.S223Splc
c.668-1G>A
2 papers
NM_005359.6
p.S223Splc
c.668-1G>T
1 paper
NM_005359.6
p.A226T
c.676G>A
1 paper
NM_005359.6
p.A226P
c.676G>C
1 paper
NM_005359.6
p.A226fs
c.676_677fs
4 papers
NM_005359.6
p.A226V
c.677C>T
1 paper
NM_005359.6
p.A226A
c.678C>A
1 paper
NM_005359.6
p.A226A
c.678C>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."