Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D396N

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.D396N
c.1186G>A
Surrounding Variants
2 papers
NM_005359.6
p.D396fs
c.1186_1187fs
2 papers
NM_005359.6
p.D396G
c.1187A>G
1 paper
NM_005359.6
p.D396delFs
c.1186delG
1 paper
NM_005359.6
p.G395V
c.1184G>T
1 paper
NM_005359.6
p.D396D
c.1188T>C
1 paper
NM_005359.6
p.V397I
c.1189G>A
1 paper
NM_005359.6
p.G395fs
c.1183_1184fs
1 paper
NM_005359.6
p.E394D
c.1182A>C
1 paper
NM_005359.6
p.E394D
c.1182A>T
1 paper
NM_005359.6
p.V397A
c.1190T>C
1 paper
NM_005359.6
p.V397G
c.1190T>G
2 papers
NM_005359.6
p.E394_V399delFs
c.1182_1197del16
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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."