Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.E417delFs

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.E417delFs
c.1249_1250delGA
Surrounding Variants
1 paper
NM_005359.6
p.D415E
c.1245C>A
1 paper
NM_005359.6
p.D415E
c.1245C>G
1 paper
NM_005359.6
p.R416_E417delFs
c.1247_1250del4
2 papers
NM_005359.6
p.R416G
c.1246A>G
1 paper
NM_005359.6
p.R416*
c.1246A>T
1 paper
NM_005359.6
p.R416_R420delFs
c.1246_1258del13
2 papers
NM_005359.6
p.R416fs
c.1246_1247fs
2 papers
NM_005359.6
p.D415N
c.1243G>A
12 papers
NM_005359.6
p.D415fs
c.1243_1244fs
12 papers
NM_005359.6
p.D415fs
c.1243_1244fs
1 paper
NM_005359.6
p.R416S
c.1248A>C
1 paper
NM_005359.6
p.R416R
c.1248A>G
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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."