Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q83_V84Splc

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.Q83_V84Splc
c.250-2A>G
Surrounding Variants
1 paper
NM_005359.6
p.Q83_V84Splc
c.250-2A>C
1 paper
NM_005359.6
p.Q83_V84Splc
c.250-2A>T
2 papers
NM_005359.6
p.Q83_V84Splc
c.250-1G>C
1 paper
NM_005359.6
p.Q83_V84Splc
c.250-4C>G
1 paper
NM_005359.6
p.V84V
c.252G>A
1 paper
NM_005359.6
p.G86C
c.256G>T
5 papers
NM_005359.6
p.G86V
c.257G>T
1 paper
NM_005359.6
p.G86G
c.258T>A
1 paper
NM_005359.6
p.R87R
c.259C>A
1 paper
NM_005359.6
p.R87fs
c.259_260fs
1 paper
NM_005359.6
p.R87W
c.259C>T
2 papers
NM_005359.6
p.K88_G89delFs
c.263_267del5
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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."