Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.L109fs

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.L109fs
c.325_326fs
Surrounding Variants
1 paper
NM_005359.6
p.L109L
c.325C>T
1 paper
NM_005359.6
p.L109delFs
c.326delT
1 paper
NM_005359.6
p.L109delFs
c.325delC
2 papers
NM_005359.6
p.L109Q
c.326T>A
1 paper
NM_005359.6
p.L109P
c.326T>C
4 papers
NM_005359.6
p.L109R
c.326T>G
1 paper
NM_005359.6
p.L109ins3
c.326_327ins9
1 paper
NM_005359.6
p.K110delFs
c.330delA
1 paper
NM_005359.6
p.K110fs
c.328_329fs
1 paper
NM_005359.6
p.E108Q
c.322G>C
4 papers
NM_005359.6
p.E108*
c.322G>T
1 paper
NM_005359.6
p.K110R
c.329A>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."