Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.L308L

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.L308L
c.924T>C
Surrounding Variants
1 paper
NM_005359.6
p.A309T
c.925G>A
1 paper
NM_005359.6
p.A309_F310insFs
c.925_928dup4
2 papers
NM_005359.6
p.A309V
c.926C>T
1 paper
NM_005359.6
p.E307E
c.921G>A
1 paper
NM_005359.6
p.F310I
c.928T>A
1 paper
NM_005359.6
p.F310L
c.928T>C
1 paper
NM_005359.6
p.F310fs
c.928_929fs
2 papers
NM_005359.6
p.E307K
c.919G>A
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.F310delFs
c.930delC
1 paper
NM_005359.6
p.F310L
c.930C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."