Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.K106_E108del3

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.K106_E108del0
c.316_324del9
Surrounding Variants
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
1 paper
NM_005359.6
p.N107delFs
c.320delA
1 paper
NM_005359.6
p.K106Q
c.316A>C
2 papers
NM_005359.6
p.K106R
c.317A>G
1 paper
NM_005359.6
p.H105fs
c.313_314fs
1 paper
NM_005359.6
p.H105_V112delFs
c.314_336del23
5 papers
NM_005359.6
p.N107fs
c.319_320fs
1 paper
NM_005359.6
p.N107_E108del1
c.321_323delTGA
1 paper
NM_005359.6
p.N107S
c.320A>G
1 paper
NM_005359.6
p.L104V
c.310C>G
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."