Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.W509fs

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.W509fs
c.1525_1526fs
Surrounding Variants
8 papers
NM_005359.6
p.W509R
c.1525T>A
8 papers
NM_005359.6
p.W509R
c.1525T>C
2 papers
NM_005359.6
p.W509G
c.1525T>G
2 papers
NM_005359.6
p.G510insFs
c.1529dupG
12 papers
NM_005359.6
p.W509*
c.1526G>A
12 papers
NM_005359.6
p.W509*
c.1527G>A
10 papers
NM_005359.6
p.G508D
c.1523G>A
1 paper
NM_005359.6
p.G508A
c.1523G>C
2 papers
NM_005359.6
p.G508V
c.1523G>T
6 papers
NM_005359.6
p.G508S
c.1522G>A
5 papers
NM_005359.6
p.G510R
c.1528G>A
5 papers
NM_005359.6
p.G510R
c.1528G>C
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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."