Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.V126G

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.V126G
c.377T>G
Surrounding Variants
5 papers
NM_005359.6
p.V126A
c.377T>C
1 paper
NM_005359.6
p.V126fs
c.376_377fs
1 paper
NM_005359.6
p.V126F
c.376G>T
7 papers
NM_005359.6
p.C127S
c.379T>A
1 paper
NM_005359.6
p.S125S
c.375T>C
2 papers
NM_005359.6
p.C127fs
c.379_380fs
5 papers
NM_005359.6
p.C127Y
c.380G>A
6 papers
NM_005359.6
p.C127S
c.380G>C
1 paper
NM_005359.6
p.S125_C127insFs
c.375_381dup7
6 papers
NM_005359.6
p.C127F
c.380G>T
1 paper
NM_005359.6
p.S125I
c.374G>T
1 paper
NM_005359.6
p.S125insFs
c.373_374insAT
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."