Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q534*

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
14 papers
NM_005359.6
p.Q534*
c.1600C>T
Surrounding Variants
1 paper
NM_005359.6
p.Q534fs
c.1600_1601fs
1 paper
NM_005359.6
p.Q534P
c.1601A>C
6 papers
NM_005359.6
p.L533P
c.1598T>C
10 papers
NM_005359.6
p.L533R
c.1598T>G
2 papers
NM_005359.6
p.L535fs
c.1603_1604fs
1 paper
NM_005359.6
p.L533fs
c.1597_1598fs
3 papers
NM_005359.6
p.L533V
c.1597C>G
4 papers
NM_005359.6
p.L533F
c.1597C>T
2 papers
NM_005359.6
p.L533fs
c.1597_1598fs
1 paper
NM_005359.6
p.A532A
c.1596C>T
2 papers
NM_005359.6
p.A532_L533Fs
c.1596_1597delinsTFs
1 paper
NM_005359.6
p.L535delFs
c.1605delC
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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."