Varaico: Literature-Extracted Genetic Variants

Gene:PDSS1
Variant:p.V239G

PDSS1

97 papers

RefSeq Summary

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

Pfam Domains

polyprenyl_syntaa 118–367UCSCPolyprenyl synthetase

Gene Aliases

HGNC Name

decaprenyl diphosphate synthase subunit 1

HGNC Previous Symbol

TPRT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_014317.5
p.V239G
c.716T>G
Surrounding Variants
1 paper
NM_014317.5
p.V239M
c.715G>A
3 papers
NM_014317.5
p.R240C
c.718C>T
1 paper
NM_014317.5
p.L238insFs
c.713dupT
1 paper
NM_014317.5
p.Q233H
c.699A>C
1 paper
NM_014317.5
p.Q233H
c.699A>T
1 paper
NM_014317.5
p.L231*
c.692T>A
1 paper
NM_014317.5
p.L231*
c.692T>G
1 paper
NM_014317.5
p.L231delFs
c.692delT
3 papers
NM_014317.5
p.S229C
c.686C>G
1 paper
NM_014317.5
p.G223V
c.668G>T
1 paper
NM_014317.5
p.R221insFs
c.662_663insT
3 papers
NM_014317.5
p.R221insFs
c.661_662insT
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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."