Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.C401R

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.C401R
c.1201T>C
Surrounding Variants
2 papers
NM_005359.6
p.C401Y
c.1202G>A
1 paper
NM_005359.6
p.C401F
c.1202G>T
1 paper
NM_005359.6
p.C401*
c.1203C>A
1 paper
NM_005359.6
p.R400K
c.1199G>A
1 paper
NM_005359.6
p.R400G
c.1198A>G
1 paper
NM_005359.6
p.L402insFs
c.1206dupT
1 paper
NM_005359.6
p.L402F
c.1204C>T
1 paper
NM_005359.6
p.L402H
c.1205T>A
1 paper
NM_005359.6
p.V399D
c.1196T>A
1 paper
NM_005359.6
p.L402L
c.1206T>A
1 paper
NM_005359.6
p.S403_V407del5
c.1207_1220del15
1 paper
NM_005359.6
p.S403_V407del0
c.1208_1219del12
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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."