Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.P244insFs

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.P244insFs
c.730_731ins4
Surrounding Variants
1 paper
NM_005359.6
p.G243R
c.727G>A
1 paper
NM_005359.6
p.P244insFs
c.731_732ins4
1 paper
NM_005359.6
p.P244_P246delFs
c.730_737del8
2 papers
NM_005359.6
p.G243fs
c.727_728fs
1 paper
NM_005359.6
p.P244fs
c.730_731fs
1 paper
NM_005359.6
p.P244A
c.730C>G
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.S242P
c.724T>C
1 paper
NM_005359.6
p.A241A
c.723A>T
2 papers
NM_005359.6
p.G243_Q245delFs
c.728_735del8
28 papers
NM_005359.6
p.Q245*
c.733C>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."