Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.S483R

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.S483R
c.1449T>G
Surrounding Variants
1 paper
NM_005359.6
p.S483R
c.1449T>A
4 papers
NM_005359.6
p.S483Splc
c.1447+2T>C
3 papers
NM_005359.6
p.S483Splc
c.1447+1G>A
1 paper
NM_005359.6
p.S483Splc
c.1447+1G>C
1 paper
NM_005359.6
p.S483Splc
c.1447+1G>T
1 paper
NM_005359.6
p.S483R
c.1447A>C
1 paper
NM_005359.6
p.S483insFs
c.1447_1448ins4
1 paper
NM_005359.6
p.S483Splc
c.1447+5G>A
1 paper
NM_005359.6
p.S483Splc
c.1447+9G>A
1 paper
NM_005359.6
p.A479D
c.1436C>A
1 paper
NM_005359.6
p.A479T
c.1435G>A
1 paper
NM_005359.6
p.A479S
c.1435G>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."