Varaico: Literature-Extracted Genetic Variants

Gene:PDSS1
Variant:p.S370R

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.S370R
c.1110T>A
Surrounding Variants
4 papers
NM_014317.5
p.S370R
c.1110T>G
5 papers
NM_014317.5
p.S370R
c.1108A>C
1 paper
NM_014317.5
p.D371E
c.1113T>A
1 paper
NM_014317.5
p.D371E
c.1113T>G
1 paper
NM_014317.5
p.Q369_S370Splc
c.1108-3T>C
1 paper
NM_014317.5
p.V373_Q374ins0
c.1118_1120dupTGC
1 paper
NM_014317.5
p.Q369_S370Splc
c.1108-7C>G
1 paper
NM_014317.5
p.T376_T377insFs
c.1126_1129dup4
1 paper
NM_014317.5
p.Q374*
c.1120C>T
1 paper
NM_014317.5
p.T376P
c.1126A>C
1 paper
NM_014317.5
p.Y378*
c.1134C>A
1 paper
NM_014317.5
p.Y378*
c.1134C>G
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