Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.K507R

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
3 papers
NM_005359.6
p.K507R
c.1520A>G
Surrounding Variants
1 paper
NM_005359.6
p.K507I
c.1520A>T
5 papers
NM_005359.6
p.K507Q
c.1519A>C
1 paper
NM_005359.6
p.K507N
c.1521A>C
3 papers
NM_005359.6
p.K507E
c.1519A>G
1 paper
NM_005359.6
p.K507K
c.1521A>G
1 paper
NM_005359.6
p.K507*
c.1519A>T
1 paper
NM_005359.6
p.K507N
c.1521A>T
6 papers
NM_005359.6
p.G508S
c.1522G>A
2 papers
NM_005359.6
p.G508C
c.1522G>T
10 papers
NM_005359.6
p.G508D
c.1523G>A
1 paper
NM_005359.6
p.G508A
c.1523G>C
2 papers
NM_005359.6
p.G508V
c.1523G>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."