Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.P91T

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
2 papers
NM_005359.6
p.P91T
c.271C>A
Surrounding Variants
1 paper
NM_005359.6
p.H92N
c.274C>A
12 papers
NM_005359.6
p.H92Y
c.274C>T
1 paper
NM_005359.6
p.F90_H92delFs
c.270_276del7
2 papers
NM_005359.6
p.H92R
c.275A>G
1 paper
NM_005359.6
p.H92L
c.275A>T
1 paper
NM_005359.6
p.H92Q
c.276T>A
1 paper
NM_005359.6
p.H92H
c.276T>C
1 paper
NM_005359.6
p.G89fs
c.265_266fs
4 papers
NM_005359.6
p.G89*
c.265G>T
1 paper
NM_005359.6
p.G89fs
c.265_266fs
1 paper
NM_005359.6
p.G89_F90delFs
c.266_269del4
1 paper
NM_005359.6
p.V93delFs
c.279delG
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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."