Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.S411C

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.S411C
c.1231A>T
Surrounding Variants
2 papers
NM_005359.6
p.S411fs
c.1231_1232fs
1 paper
NM_005359.6
p.S411fs
c.1231_1232fs
5 papers
NM_005359.6
p.S411N
c.1232G>A
1 paper
NM_005359.6
p.Q410Q
c.1230G>A
1 paper
NM_005359.6
p.S411T
c.1232G>C
2 papers
NM_005359.6
p.Q410R
c.1229A>G
1 paper
NM_005359.6
p.Q410L
c.1229A>T
1 paper
NM_005359.6
p.Q410_V426del0
c.1230_1277del48
7 papers
NM_005359.6
p.Q410fs
c.1228_1229fs
3 papers
NM_005359.6
p.Q410*
c.1228C>T
7 papers
NM_005359.6
p.S411delFs
c.1231_1232delAG
1 paper
NM_005359.6
p.Q410fs
c.1228_1229fs
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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."