Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.K436N

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
4 papers
NM_005359.6
p.K436N
c.1308G>C
Surrounding Variants
5 papers
NM_005359.6
p.K436N
c.1308G>T
1 paper
NM_005359.6
p.K436M
c.1307A>T
3 papers
NM_005359.6
p.K436_V437Splc
c.1308+1G>A
1 paper
NM_005359.6
p.K436_V437Splc
c.1308+1G>C
1 paper
NM_005359.6
p.K436E
c.1306A>G
1 paper
NM_005359.6
p.K436fs
c.1306_1307fs
1 paper
NM_005359.6
p.K436_V437Splc
c.1308+2T>A
1 paper
NM_005359.6
p.K436_V437Splc
c.1308+2T>C
2 papers
NM_005359.6
p.K436_V437Splc
c.1308+2T>G
1 paper
NM_005359.6
p.I435fs
c.1303_1304fs
1 paper
NM_005359.6
p.K436_V437Splc
c.1308+6T>C
1 paper
NM_005359.6
p.Y434S
c.1301A>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."