Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.L498delFs

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.L498delFs
c.1494delA
Surrounding Variants
2 papers
NM_005359.6
p.L498S
c.1493T>C
1 paper
NM_005359.6
p.L498F
c.1494A>C
1 paper
NM_005359.6
p.L498L
c.1494A>G
1 paper
NM_005359.6
p.L498F
c.1494A>T
1 paper
NM_005359.6
p.L498L
c.1492T>C
1 paper
NM_005359.6
p.C499_I500del0
c.1495_1500del6
1 paper
NM_005359.6
p.C499S
c.1495T>A
13 papers
NM_005359.6
p.C499R
c.1495T>C
2 papers
NM_005359.6
p.C499G
c.1495T>G
26 papers
NM_005359.6
p.R497H
c.1490G>A
18 papers
NM_005359.6
p.C499Y
c.1496G>A
1 paper
NM_005359.6
p.C499S
c.1496G>C
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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."