Varaico: Literature-Extracted Genetic Variants

Gene:PDSS1
Variant:p.D184E

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
1 paper
NM_014317.5
p.D184E
c.552C>G
Surrounding Variants
1 paper
NM_014317.5
p.D184E
c.552C>A
1 paper
NM_014317.5
p.D184A
c.551A>C
1 paper
NM_014317.5
p.D185N
c.553G>A
1 paper
NM_014317.5
p.D184N
c.550G>A
1 paper
NM_014317.5
p.S187R
c.559A>C
1 paper
NM_014317.5
p.S187R
c.561T>A
1 paper
NM_014317.5
p.S187R
c.561T>G
1 paper
NM_014317.5
p.D180D
c.540T>C
1 paper
NM_014317.5
p.R189G
c.565C>G
1 paper
NM_014317.5
p.R189*
c.565C>T
1 paper
NM_014317.5
p.H179R
c.536A>G
1 paper
NM_014317.5
p.H179Y
c.535C>T
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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."