Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.V397G

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.V397G
c.1190T>G
Surrounding Variants
1 paper
NM_005359.6
p.V397A
c.1190T>C
1 paper
NM_005359.6
p.V397I
c.1189G>A
1 paper
NM_005359.6
p.D396D
c.1188T>C
1 paper
NM_005359.6
p.V399insFs
c.1195dupG
2 papers
NM_005359.6
p.V399delFs
c.1195delG
2 papers
NM_005359.6
p.D396G
c.1187A>G
19 papers
NM_005359.6
p.W398*
c.1193G>A
18 papers
NM_005359.6
p.W398*
c.1194G>A
1 paper
NM_005359.6
p.D396N
c.1186G>A
1 paper
NM_005359.6
p.W398C
c.1194G>C
1 paper
NM_005359.6
p.W398C
c.1194G>T
2 papers
NM_005359.6
p.D396fs
c.1186_1187fs
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."