Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.F408L

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.F408L
c.1224T>G
Surrounding Variants
1 paper
NM_005359.6
p.F408L
c.1224T>A
1 paper
NM_005359.6
p.V409I
c.1225G>A
1 paper
NM_005359.6
p.V409fs
c.1225_1226fs
3 papers
NM_005359.6
p.F408S
c.1223T>C
1 paper
NM_005359.6
p.F408I
c.1222T>A
3 papers
NM_005359.6
p.V409A
c.1226T>C
1 paper
NM_005359.6
p.F408L
c.1222T>C
1 paper
NM_005359.6
p.F408V
c.1222T>G
3 papers
NM_005359.6
p.Q410insFs
c.1229_1230insCA
1 paper
NM_005359.6
p.F408fs
c.1222_1223fs
3 papers
NM_005359.6
p.Q410delFs
c.1228_1229delCA
1 paper
NM_005359.6
p.S411_E417delFs
c.1233_1249del17
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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."