Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.T453A

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.T453A
c.1357A>G
Surrounding Variants
4 papers
NM_005359.6
p.T453fs
c.1357_1358fs
2 papers
NM_005359.6
p.T453I
c.1358C>T
1 paper
NM_005359.6
p.A452A
c.1356T>C
5 papers
NM_005359.6
p.A452T
c.1354G>A
2 papers
NM_005359.6
p.A454T
c.1360G>A
2 papers
NM_005359.6
p.A452fs
c.1354_1355fs
1 paper
NM_005359.6
p.A454_Q455insC
c.1360_1364ins3
1 paper
NM_005359.6
p.A454fs
c.1360_1361fs
1 paper
NM_005359.6
p.A454_Q455delFs
c.1361_1364del4
1 paper
NM_005359.6
p.A452fs
c.1354_1355fs
2 papers
NM_005359.6
p.A451E
c.1352C>A
2 papers
NM_005359.6
p.A451V
c.1352C>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."