Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.L94P

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.L94P
c.281T>C
Surrounding Variants
1 paper
NM_020381.4
p.P93R
c.278C>G
1 paper
NM_020381.4
p.P93S
c.277C>T
1 paper
NM_020381.4
p.P93A
c.277C>G
1 paper
NM_020381.4
p.P93T
c.277C>A
1 paper
NM_020381.4
p.H92H
c.276C>T
1 paper
NM_020381.4
p.H92P
c.275A>C
1 paper
NM_020381.4
p.R99W
c.295A>T
1 paper
NM_020381.4
p.R85L
c.254G>T
1 paper
NM_020381.4
p.Q83E
c.247C>G
1 paper
NM_020381.4
p.A81S
c.241G>T
1 paper
NM_020381.4
p.A81T
c.241G>A
1 paper
NM_020381.4
p.S78G
c.232A>G
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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."