Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.H317Q

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.H317Q
c.951T>A
Surrounding Variants
1 paper
NM_005359.6
p.H317Q
c.951T>G
2 papers
NM_005359.6
p.H317R
c.950A>G
1 paper
NM_005359.6
p.P318T
c.952C>A
3 papers
NM_005359.6
p.P318S
c.952C>T
2 papers
NM_005359.6
p.P318L
c.953C>T
1 paper
NM_005359.6
p.H317Y
c.949C>T
13 papers
NM_005359.6
p.N316S
c.947A>G
1 paper
NM_005359.6
p.A319S
c.955G>T
1 paper
NM_005359.6
p.A319D
c.956C>A
1 paper
NM_005359.6
p.S315Y
c.944C>A
1 paper
NM_005359.6
p.N316_H317delFs
c.947_950del4
1 paper
NM_005359.6
p.S315fs
c.943_944fs
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."