Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.V128M

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
4 papers
NM_005359.6
p.V128M
c.382G>A
Surrounding Variants
3 papers
NM_005359.6
p.V128L
c.382G>C
3 papers
NM_005359.6
p.V128L
c.382G>T
1 paper
NM_005359.6
p.V128fs
c.382_383fs
1 paper
NM_005359.6
p.C127*
c.381T>A
1 paper
NM_005359.6
p.C127_V128ins1
c.381_382insATC
5 papers
NM_005359.6
p.C127Y
c.380G>A
6 papers
NM_005359.6
p.C127S
c.380G>C
6 papers
NM_005359.6
p.C127F
c.380G>T
3 papers
NM_005359.6
p.N129D
c.385A>G
1 paper
NM_005359.6
p.N129Y
c.385A>T
7 papers
NM_005359.6
p.C127S
c.379T>A
2 papers
NM_005359.6
p.C127fs
c.379_380fs
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."