Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D124_V126Fs

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.D124_V126Fs
c.372_378delinsAAFs
Surrounding Variants
1 paper
NM_005359.6
p.S125_N129del0
c.374_385del12
1 paper
NM_005359.6
p.S125insFs
c.373_374insAT
1 paper
NM_005359.6
p.S125fs
c.373_374fs
1 paper
NM_005359.6
p.D124N
c.370G>A
1 paper
NM_005359.6
p.D124_S125insFs
c.372_373dupTA
2 papers
NM_005359.6
p.D124fs
c.370_371fs
1 paper
NM_005359.6
p.S125_C127insFs
c.375_381dup7
1 paper
NM_005359.6
p.S125I
c.374G>T
1 paper
NM_005359.6
p.D124fs
c.370_371fs
1 paper
NM_005359.6
p.C123C
c.369T>C
1 paper
NM_005359.6
p.S125S
c.375T>C
1 paper
NM_005359.6
p.V126fs
c.376_377fs
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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."