Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.L414delFs

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.L414delFs
c.1241delT
Surrounding Variants
5 papers
NM_005359.6
p.Y413*
c.1239C>A
5 papers
NM_005359.6
p.Y413*
c.1239C>G
4 papers
NM_005359.6
p.L414fs
c.1240_1241fs
4 papers
NM_005359.6
p.L414*
c.1241T>A
2 papers
NM_005359.6
p.Y413H
c.1237T>C
4 papers
NM_005359.6
p.L414*
c.1241T>G
1 paper
NM_005359.6
p.Y413D
c.1237T>G
2 papers
NM_005359.6
p.Y413insFs
c.1238_1239insA
2 papers
NM_005359.6
p.L414delFs
c.1242delA
1 paper
NM_005359.6
p.Y413fs
c.1237_1238fs
33 papers
NM_005359.6
p.D415_R416delFs
c.1245_1248del4
10 papers
NM_005359.6
p.Y412*
c.1236C>A
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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."