Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.V354M

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
3 papers
NM_005359.6
p.V354M
c.1060G>A
Surrounding Variants
6 papers
NM_005359.6
p.V354L
c.1060G>C
5 papers
NM_005359.6
p.V354L
c.1060G>T
1 paper
NM_005359.6
p.V354fs
c.1060_1061fs
4 papers
NM_005359.6
p.Y353*
c.1059C>A
3 papers
NM_005359.6
p.Y353*
c.1059C>G
1 paper
NM_005359.6
p.Y353Y
c.1059C>T
2 papers
NM_005359.6
p.V354E
c.1061T>A
1 paper
NM_005359.6
p.V354A
c.1061T>C
2 papers
NM_005359.6
p.V354G
c.1061T>G
1 paper
NM_005359.6
p.V354delFs
c.1062delG
7 papers
NM_005359.6
p.Y353S
c.1058A>C
14 papers
NM_005359.6
p.Y353C
c.1058A>G
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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."