Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.L501R

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.L501R
c.1502T>G
Surrounding Variants
2 papers
NM_005359.6
p.L501F
c.1501C>T
1 paper
NM_005359.6
p.R502del1
c.1504_1505delAGG
28 papers
NM_005359.6
p.I500M
c.1500A>G
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.R502K
c.1505G>A
2 papers
NM_005359.6
p.I500K
c.1499T>A
51 papers
NM_005359.6
p.I500T
c.1499T>C
2 papers
NM_005359.6
p.I500R
c.1499T>G
8 papers
NM_005359.6
p.I500L
c.1498A>C
89 papers
NM_005359.6
p.I500V
c.1498A>G
8 papers
NM_005359.6
p.I500L
c.1498A>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."