Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.F119L

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.F119L
c.355T>C
Surrounding Variants
1 paper
NM_005359.6
p.F119fs
c.355_356fs
5 papers
NM_005359.6
p.A118A
c.354G>A
1 paper
NM_005359.6
p.F119insFs
c.356_357ins4
2 papers
NM_005359.6
p.A118E
c.353C>A
1 paper
NM_005359.6
p.A118insFs
c.353_354insA
1 paper
NM_005359.6
p.A118G
c.353C>G
52 papers
NM_005359.6
p.A118V
c.353C>T
1 paper
NM_005359.6
p.F119L
c.357T>A
1 paper
NM_005359.6
p.F119L
c.357T>G
1 paper
NM_005359.6
p.D120delFs
c.358delG
3 papers
NM_005359.6
p.A118T
c.352G>A
2 papers
NM_005359.6
p.D120N
c.358G>A
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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."