Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.Q277H

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
1 paper
NM_020381.4
p.Q277H
c.831G>C
Surrounding Variants
1 paper
NM_020381.4
p.Q277H
c.831G>T
1 paper
NM_020381.4
p.N278delFs
c.832delT
1 paper
NM_020381.4
p.Q282R
c.845A>G
1 paper
NM_020381.4
p.Y283*
c.849T>G
1 paper
NM_020381.4
p.Y283*
c.849T>A
1 paper
NM_020381.4
p.A270S
c.808G>T
1 paper
NM_020381.4
p.A288T
c.862G>A
1 paper
NM_020381.4
p.H291Y
c.871C>T
1 paper
NM_020381.4
p.K292E
c.874A>G
1 paper
NM_020381.4
p.K292_I293Splc
c.876+1G>A
1 paper
NM_020381.4
p.K261T
c.782A>C
1 paper
NM_020381.4
p.K292_I293Splc
c.876+6T>C
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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."