Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Y353N

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
4 papers
NM_005359.6
p.Y353N
c.1057T>A
Surrounding Variants
4 papers
NM_005359.6
p.Y353H
c.1057T>C
2 papers
NM_005359.6
p.Y353D
c.1057T>G
1 paper
NM_005359.6
p.Y353fs
c.1057_1058fs
1 paper
NM_005359.6
p.Y353_V354insA
c.1057_1061ins3
1 paper
NM_005359.6
p.Y353_P356del0
c.1058_1066del9
7 papers
NM_005359.6
p.Y353S
c.1058A>C
14 papers
NM_005359.6
p.Y353C
c.1058A>G
1 paper
NM_005359.6
p.Y353F
c.1058A>T
4 papers
NM_005359.6
p.Y353*
c.1059C>A
3 papers
NM_005359.6
p.Y353*
c.1059C>G
1 paper
NM_005359.6
p.Y353Y
c.1059C>T
19 papers
NM_005359.6
p.G352E
c.1055G>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."