Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.P299S

PDSS2

113 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the form...

Pfam Domains

polyprenyl_syntaa 107–310UCSCPolyprenyl synthetase

Gene Aliases

HGNC Name

decaprenyl diphosphate synthase subunit 2

HGNC Previous Symbol

C6orf210

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_020381.4
p.P299S
c.895C>T
Surrounding Variants
1 paper
NM_020381.4
p.P299T
c.895C>A
1 paper
NM_020381.4
p.P299R
c.896C>G
1 paper
NM_020381.4
p.T305T
c.915C>T
1 paper
NM_020381.4
p.K292_I293Splc
c.877-2A>G
2 papers
NM_020381.4
p.F311S
c.932T>C
1 paper
NM_020381.4
p.F311delFs
c.932_933delAA
1 paper
NM_020381.4
p.A316T
c.946G>A
1 paper
NM_020381.4
p.A316delFs
c.948delA
1 paper
NM_020381.4
p.V318E
c.953T>A
10 papers
NM_020381.4
p.Q322*
c.964C>T
1 paper
NM_020381.4
p.G335*
c.1003G>T
1 paper
NM_020381.4
p.G335R
c.1003G>C
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."