Varaico: Literature-Extracted Genetic Variants

Gene:PDSS1
Variant:p.T323fs

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.T323fs
c.967_968fs
Surrounding Variants
1 paper
NM_014317.5
p.T323delFs
c.968delC
1 paper
NM_014317.5
p.T323I
c.968C>T
1 paper
NM_014317.5
p.K321E
c.961A>G
1 paper
NM_014317.5
p.D326N
c.976G>A
1 paper
NM_014317.5
p.L327R
c.980T>G
1 paper
NM_014317.5
p.S314L
c.941C>T
1 paper
NM_014317.5
p.T313N
c.938C>A
1 paper
NM_014317.5
p.T313S
c.938C>G
1 paper
NM_014317.5
p.T313S
c.937A>T
1 paper
NM_014317.5
p.D311delFs
c.933delC
12 papers
NM_014317.5
p.D308E
c.924T>A
14 papers
NM_014317.5
p.D308E
c.924T>G
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