Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.C443S

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.C443S
c.1327T>A
Surrounding Variants
1 paper
NM_005359.6
p.C443R
c.1327T>C
1 paper
NM_005359.6
p.C443Y
c.1328G>A
1 paper
NM_005359.6
p.Q442H
c.1326G>C
1 paper
NM_005359.6
p.C443S
c.1328G>C
1 paper
NM_005359.6
p.Q442H
c.1326G>T
1 paper
NM_005359.6
p.Q442L
c.1325A>T
2 papers
NM_005359.6
p.Q442delFs
c.1326delG
1 paper
NM_005359.6
p.C443*
c.1329T>A
3 papers
NM_005359.6
p.Q442fs
c.1324_1325fs
17 papers
NM_005359.6
p.Q442*
c.1324C>T
1 paper
NM_005359.6
p.H444Y
c.1330C>T
2 papers
NM_005359.6
p.Q442delFs
c.1325_1326delAG
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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."