Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.A327P

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.A327P
c.979G>C
Surrounding Variants
1 paper
NM_005359.6
p.Y328insFs
c.982dupT
4 papers
NM_005359.6
p.I326T
c.977T>C
1 paper
NM_005359.6
p.I326insFs
c.976_977insG
1 paper
NM_005359.6
p.I326_A327ins9
c.976_980ins27
1 paper
NM_005359.6
p.Y328fs
c.982_983fs
1 paper
NM_005359.6
p.Y328insFs
c.983_984insT
1 paper
NM_005359.6
p.Y328C
c.983A>G
1 paper
NM_005359.6
p.Y328F
c.983A>T
2 papers
NM_005359.6
p.Y328*
c.984C>A
1 paper
NM_005359.6
p.S325Y
c.974C>A
2 papers
NM_005359.6
p.Y328*
c.984C>G
1 paper
NM_005359.6
p.S325C
c.974C>G
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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."