Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.H111fs

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.H111fs
c.331_332fs
Surrounding Variants
1 paper
NM_005359.6
p.H111Y
c.331C>T
1 paper
NM_005359.6
p.H111delFs
c.332_333delAT
1 paper
NM_005359.6
p.H111L
c.332A>T
1 paper
NM_005359.6
p.K110R
c.329A>G
1 paper
NM_005359.6
p.H111H
c.333T>C
1 paper
NM_005359.6
p.K110fs
c.328_329fs
1 paper
NM_005359.6
p.V112fs
c.334_335fs
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
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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."