Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.F339L

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.F339L
c.1015T>C
Surrounding Variants
1 paper
NM_005359.6
p.F339I
c.1015T>A
1 paper
NM_005359.6
p.F339fs
c.1015_1016fs
2 papers
NM_005359.6
p.T338T
c.1014A>G
2 papers
NM_005359.6
p.F339S
c.1016T>C
1 paper
NM_005359.6
p.F339C
c.1016T>G
3 papers
NM_005359.6
p.T338K
c.1013C>A
1 paper
NM_005359.6
p.T338insFs
c.1013_1014insAA
3 papers
NM_005359.6
p.T338I
c.1013C>T
1 paper
NM_005359.6
p.T338_F339delFs
c.1014_1017del4
2 papers
NM_005359.6
p.F339L
c.1017T>A
2 papers
NM_005359.6
p.F339L
c.1017T>G
1 paper
NM_005359.6
p.T338fs
c.1012_1013fs
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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."