Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.P511L

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
5 papers
NM_005359.6
p.P511L
c.1532C>T
Surrounding Variants
1 paper
NM_005359.6
p.P511Q
c.1532C>A
1 paper
NM_005359.6
p.P511fs
c.1531_1532fs
1 paper
NM_005359.6
p.P511S
c.1531C>T
1 paper
NM_005359.6
p.P511P
c.1533G>A
1 paper
NM_005359.6
p.D512N
c.1534G>A
5 papers
NM_005359.6
p.G510E
c.1529G>A
1 paper
NM_005359.6
p.G510A
c.1529G>C
12 papers
NM_005359.6
p.G510V
c.1529G>T
5 papers
NM_005359.6
p.G510R
c.1528G>A
5 papers
NM_005359.6
p.G510R
c.1528G>C
12 papers
NM_005359.6
p.W509*
c.1527G>A
1 paper
NM_005359.6
p.Y513N
c.1537T>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."