Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R502K

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.R502K
c.1505G>A
Surrounding Variants
2 papers
NM_005359.6
p.R502G
c.1504A>G
1 paper
NM_005359.6
p.R502W
c.1504A>T
1 paper
NM_005359.6
p.R502S
c.1506G>C
1 paper
NM_005359.6
p.R502S
c.1506G>T
2 papers
NM_005359.6
p.M503insFs
c.1507_1508ins4
1 paper
NM_005359.6
p.M503fs
c.1507_1508fs
1 paper
NM_005359.6
p.M503insFs
c.1508_1509insT
2 papers
NM_005359.6
p.M503fs
c.1507_1508fs
1 paper
NM_005359.6
p.M503_F505del0
c.1509_1514del6
1 paper
NM_005359.6
p.R502del1
c.1504_1505delAGG
2 papers
NM_005359.6
p.L501R
c.1502T>G
1 paper
NM_005359.6
p.M503R
c.1508T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."