Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.C345*

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
2 papers
NM_005359.6
p.C345*
c.1035C>A
Surrounding Variants
2 papers
NM_005359.6
p.P346S
c.1036C>T
1 paper
NM_005359.6
p.P346fs
c.1036_1037fs
1 paper
NM_005359.6
p.C345Y
c.1034G>A
1 paper
NM_005359.6
p.C345S
c.1034G>C
5 papers
NM_005359.6
p.P346delFs
c.1037delC
1 paper
NM_005359.6
p.C345S
c.1033T>A
3 papers
NM_005359.6
p.S344R
c.1032C>A
3 papers
NM_005359.6
p.S344R
c.1032C>G
5 papers
NM_005359.6
p.I347V
c.1039A>G
1 paper
NM_005359.6
p.S344N
c.1031G>A
1 paper
NM_005359.6
p.S344I
c.1031G>T
3 papers
NM_005359.6
p.S344R
c.1030A>C
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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."