Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.E330A

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
22 papers
NM_005359.6
p.E330A
c.989A>C
Surrounding Variants
13 papers
NM_005359.6
p.E330G
c.989A>G
1 paper
NM_005359.6
p.E330V
c.989A>T
1 paper
NM_005359.6
p.E330D
c.990A>C
1 paper
NM_005359.6
p.E330D
c.990A>T
28 papers
NM_005359.6
p.E330K
c.988G>A
5 papers
NM_005359.6
p.E330Q
c.988G>C
3 papers
NM_005359.6
p.E330*
c.988G>T
2 papers
NM_005359.6
p.M331T
c.992T>C
2 papers
NM_005359.6
p.M331I
c.993G>A
2 papers
NM_005359.6
p.M331I
c.993G>C
2 papers
NM_005359.6
p.M331I
c.993G>T
1 paper
NM_005359.6
p.F329I
c.985T>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."