Varaico: Literature-Extracted Genetic Variants

Gene:PDSS1

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
1–12 of 169 variants
14 papers
NM_014317.5
p.D308E
c.924T>G
12 papers
NM_014317.5
p.D308E
c.924T>A
5 papers
NM_014317.5
p.S370R
c.1108A>C
4 papers
NM_014317.5
p.V239G
c.716T>G
4 papers
NM_014317.5
p.S370R
c.1110T>A
4 papers
NM_014317.5
p.S370R
c.1110T>G
4 papers
NM_014317.5
p.R395*
c.1183C>T
3 papers
NM_014317.5
p.F136C
c.407T>G
3 papers
NM_014317.5
p.K197E
c.589A>G
3 papers
NM_014317.5
p.R221insFs
c.661_662insT
3 papers
NM_014317.5
p.R221*
c.661C>T
3 papers
NM_014317.5
p.R221fs
c.661_662fs
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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."