Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.A433S

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.A433S
c.1297G>T
Surrounding Variants
1 paper
NM_005359.6
p.A433T
c.1297G>A
1 paper
NM_005359.6
p.A433E
c.1298C>A
3 papers
NM_005359.6
p.A433V
c.1298C>T
1 paper
NM_005359.6
p.A433delFs
c.1299delA
1 paper
NM_005359.6
p.S432I
c.1295G>T
2 papers
NM_005359.6
p.S432G
c.1294A>G
1 paper
NM_005359.6
p.Y434fs
c.1300_1301fs
1 paper
NM_005359.6
p.Y434S
c.1301A>C
1 paper
NM_005359.6
p.Y434_I435del1
c.1302_1304delTAT
1 paper
NM_005359.6
p.P431Q
c.1292C>A
1 paper
NM_005359.6
p.I435fs
c.1303_1304fs
2 papers
NM_005359.6
p.Y430*
c.1290C>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."