Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.I478del1

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.I478del1
c.1432_1433delATA
Surrounding Variants
1 paper
NM_005359.6
p.G477_I478delFs
c.1431_1432delAA
2 papers
NM_005359.6
p.G477*
c.1429G>T
1 paper
NM_005359.6
p.G476D
c.1427G>A
1 paper
NM_005359.6
p.I478K
c.1433T>A
1 paper
NM_005359.6
p.G476C
c.1426G>T
1 paper
NM_005359.6
p.G476insFs
c.1426dupG
1 paper
NM_005359.6
p.A479T
c.1435G>A
1 paper
NM_005359.6
p.A479S
c.1435G>T
1 paper
NM_005359.6
p.A479D
c.1436C>A
1 paper
NM_005359.6
p.V475fs
c.1423_1424fs
1 paper
NM_005359.6
p.S474S
c.1422A>C
9 papers
NM_005359.6
p.S474*
c.1421C>A
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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."