Varaico: Literature-Extracted Genetic Variants

Gene:PDSS1
Variant:p.R221fs

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
3 papers
NM_014317.5
p.R221fs
c.661_662fs
Surrounding Variants
3 papers
NM_014317.5
p.R221insFs
c.661_662insT
3 papers
NM_014317.5
p.R221*
c.661C>T
1 paper
NM_014317.5
p.R221insFs
c.662_663insT
1 paper
NM_014317.5
p.G223V
c.668G>T
1 paper
NM_014317.5
p.S213fs
c.637_638fs
3 papers
NM_014317.5
p.S229C
c.686C>G
1 paper
NM_014317.5
p.L231delFs
c.692delT
1 paper
NM_014317.5
p.S213insFs
c.637dupT
1 paper
NM_014317.5
p.L212F
c.634C>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.D209H
c.625G>C
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