Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.L104F

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
5 papers
NM_005359.6
p.L104F
c.310C>T
Surrounding Variants
1 paper
NM_005359.6
p.L104V
c.310C>G
1 paper
NM_005359.6
p.D103E
c.309T>G
1 paper
NM_005359.6
p.H105fs
c.313_314fs
1 paper
NM_005359.6
p.H105_V112delFs
c.314_336del23
2 papers
NM_005359.6
p.D103N
c.307G>A
1 paper
NM_005359.6
p.P102P
c.306T>C
1 paper
NM_005359.6
p.H105Q
c.315C>A
3 papers
NM_005359.6
p.K106insFs
c.316dupA
1 paper
NM_005359.6
p.H105Q
c.315C>G
10 papers
NM_005359.6
p.P102L
c.305C>T
1 paper
NM_005359.6
p.N107delFs
c.320delA
1 paper
NM_005359.6
p.K106_E108del0
c.316_324del9
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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."