Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.E307K

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.E307K
c.919G>A
Surrounding Variants
1 paper
NM_005359.6
p.E307fs
c.919_920fs
4 papers
NM_005359.6
p.E307*
c.919G>T
2 papers
NM_005359.6
p.N306K
c.918T>A
2 papers
NM_005359.6
p.N306K
c.918T>G
2 papers
NM_005359.6
p.N306S
c.917A>G
1 paper
NM_005359.6
p.E307E
c.921G>A
1 paper
NM_005359.6
p.N306fs
c.916_917fs
1 paper
NM_005359.6
p.A309_F310insFs
c.925_928dup4
1 paper
NM_005359.6
p.H305L
c.914A>T
1 paper
NM_005359.6
p.L308L
c.924T>C
1 paper
NM_005359.6
p.H305N
c.913C>A
1 paper
NM_005359.6
p.H305Y
c.913C>T
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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."