Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.H261fs

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
3 papers
NM_005359.6
p.H261fs
c.781_782fs
Surrounding Variants
1 paper
NM_005359.6
p.H261Y
c.781C>T
1 paper
NM_005359.6
p.H261insFs
c.782_783insT
6 papers
NM_005359.6
p.Y260*
c.780C>A
6 papers
NM_005359.6
p.Y260*
c.780C>G
1 paper
NM_005359.6
p.H261_H262del2
c.781_785del6
1 paper
NM_005359.6
p.Y260F
c.779A>T
1 paper
NM_005359.6
p.H261Q
c.783T>A
1 paper
NM_005359.6
p.H261_H262insFs
c.783_784insC
1 paper
NM_005359.6
p.H262insFs
c.784_785insAT
1 paper
NM_005359.6
p.H262Y
c.784C>T
1 paper
NM_005359.6
p.H262fs
c.784_785fs
3 papers
NM_005359.6
p.Y260insFs
c.779dupA
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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."