Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D142Splc

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.D142Splc
c.424+6T>C
Surrounding Variants
12 papers
NM_005359.6
p.D142Splc
c.424+5G>A
1 paper
NM_005359.6
p.D142Splc
c.424+9A>G
1 paper
NM_005359.6
p.D142Splc
c.424+2T>C
2 papers
NM_005359.6
p.D142Splc
c.424+1G>A
2 papers
NM_005359.6
p.D142Splc
c.424+1G>C
1 paper
NM_005359.6
p.D142Splc
c.424+14G>A
1 paper
NM_005359.6
p.I141L
c.421A>C
1 paper
NM_005359.6
p.G140G
c.420A>G
1 paper
NM_005359.6
p.G140*
c.418G>T
1 paper
NM_005359.6
p.P139L
c.416C>T
1 paper
NM_005359.6
p.P139S
c.415C>T
2 papers
NM_005359.6
p.S138*
c.413C>A
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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."