Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.V475fs

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.V475fs
c.1423_1424fs
Surrounding Variants
1 paper
NM_005359.6
p.S474S
c.1422A>C
1 paper
NM_005359.6
p.G476insFs
c.1426dupG
9 papers
NM_005359.6
p.S474*
c.1421C>A
10 papers
NM_005359.6
p.S474*
c.1421C>G
1 paper
NM_005359.6
p.G476C
c.1426G>T
1 paper
NM_005359.6
p.S474T
c.1420T>A
1 paper
NM_005359.6
p.S474P
c.1420T>C
3 papers
NM_005359.6
p.S474delFs
c.1421delC
1 paper
NM_005359.6
p.G473G
c.1419A>G
1 paper
NM_005359.6
p.G476D
c.1427G>A
1 paper
NM_005359.6
p.G473E
c.1418G>A
1 paper
NM_005359.6
p.G473V
c.1418G>T
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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."