Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.C115R

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.C115R
c.343T>C
Surrounding Variants
1 paper
NM_005359.6
p.Q116_S125del10
c.346_374del30
4 papers
NM_005359.6
p.C115Y
c.344G>A
3 papers
NM_005359.6
p.C115F
c.344G>T
1 paper
NM_005359.6
p.Y114*
c.342T>A
1 paper
NM_005359.6
p.Y114Y
c.342T>C
1 paper
NM_005359.6
p.Y114*
c.342T>G
1 paper
NM_005359.6
p.C115W
c.345T>G
2 papers
NM_005359.6
p.Q116E
c.346C>G
15 papers
NM_005359.6
p.Q116*
c.346C>T
2 papers
NM_005359.6
p.Y114N
c.340T>A
1 paper
NM_005359.6
p.Y114fs
c.340_341fs
7 papers
NM_005359.6
p.K113R
c.338A>G
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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."