Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.S242P

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.S242P
c.724T>C
Surrounding Variants
1 paper
NM_005359.6
p.A241A
c.723A>T
2 papers
NM_005359.6
p.G243_Q245delFs
c.728_735del8
5 papers
NM_005359.6
p.S242*
c.725C>A
6 papers
NM_005359.6
p.S242*
c.725C>G
1 paper
NM_005359.6
p.A241E
c.722C>A
2 papers
NM_005359.6
p.A241V
c.722C>T
1 paper
NM_005359.6
p.G243R
c.727G>A
1 paper
NM_005359.6
p.A241S
c.721G>T
1 paper
NM_005359.6
p.A241delFs
c.722delC
2 papers
NM_005359.6
p.G243fs
c.727_728fs
1 paper
NM_005359.6
p.A241_P244delFs
c.723_730del8
1 paper
NM_005359.6
p.P244insFs
c.730_731ins4
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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."