Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.P246S

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.P246S
c.736C>T
Surrounding Variants
6 papers
NM_005359.6
p.P246T
c.736C>A
1 paper
NM_005359.6
p.P246R
c.737C>G
1 paper
NM_005359.6
p.P246L
c.737C>T
28 papers
NM_005359.6
p.Q245*
c.733C>T
1 paper
NM_005359.6
p.Q245delFs
c.734delA
1 paper
NM_005359.6
p.Q245fs
c.733_734fs
1 paper
NM_005359.6
p.G247*
c.739G>T
1 paper
NM_005359.6
p.Q248insFs
c.742_743insG
1 paper
NM_005359.6
p.P244fs
c.730_731fs
1 paper
NM_005359.6
p.P244A
c.730C>G
1 paper
NM_005359.6
p.Q248E
c.742C>G
8 papers
NM_005359.6
p.Q248*
c.742C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."