Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D351del1

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.D351del1
c.1051_1052delGAT
Surrounding Variants
6 papers
NM_005359.6
p.V350D
c.1049T>A
2 papers
NM_005359.6
p.V350F
c.1048G>T
28 papers
NM_005359.6
p.D351N
c.1051G>A
58 papers
NM_005359.6
p.D351H
c.1051G>C
23 papers
NM_005359.6
p.D351Y
c.1051G>T
4 papers
NM_005359.6
p.D351A
c.1052A>C
17 papers
NM_005359.6
p.D351G
c.1052A>G
15 papers
NM_005359.6
p.D351V
c.1052A>T
1 paper
NM_005359.6
p.T349S
c.1046C>G
6 papers
NM_005359.6
p.T349I
c.1046C>T
1 paper
NM_005359.6
p.T349fs
c.1045_1046fs
1 paper
NM_005359.6
p.T349P
c.1045A>C
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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."