Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.G471_A479delFs

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.G471_A479delFs
c.1411_1435del25
Surrounding Variants
1 paper
NM_005359.6
p.P470H
c.1409C>A
1 paper
NM_005359.6
p.P470R
c.1409C>G
1 paper
NM_005359.6
p.G471fs
c.1411_1412fs
3 papers
NM_005359.6
p.P470fs
c.1408_1409fs
3 papers
NM_005359.6
p.P470S
c.1408C>T
1 paper
NM_005359.6
p.G471G
c.1413C>A
1 paper
NM_005359.6
p.I469M
c.1407C>G
2 papers
NM_005359.6
p.P472S
c.1414C>T
1 paper
NM_005359.6
p.I469T
c.1406T>C
2 papers
NM_005359.6
p.N468S
c.1403A>G
1 paper
NM_005359.6
p.N468I
c.1403A>T
2 papers
NM_005359.6
p.G473R
c.1417G>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."