Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D439Y

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.D439Y
c.1315G>T
Surrounding Variants
1 paper
NM_005359.6
p.D439A
c.1316A>C
1 paper
NM_005359.6
p.V437V
c.1311C>G
1 paper
NM_005359.6
p.L440S
c.1319T>C
1 paper
NM_005359.6
p.R441S
c.1321C>A
1 paper
NM_005359.6
p.R441fs
c.1321_1322fs
5 papers
NM_005359.6
p.R441C
c.1321C>T
1 paper
NM_005359.6
p.V437I
c.1309G>A
1 paper
NM_005359.6
p.V437fs
c.1309_1310fs
3 papers
NM_005359.6
p.R441H
c.1322G>A
1 paper
NM_005359.6
p.K436_V437Splc
c.1309-1G>A
5 papers
NM_005359.6
p.R441P
c.1322G>C
1 paper
NM_005359.6
p.R441L
c.1322G>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."