Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.R349*

PDSS2

113 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the form...

Pfam Domains

polyprenyl_syntaa 107–310UCSCPolyprenyl synthetase

Gene Aliases

HGNC Name

decaprenyl diphosphate synthase subunit 2

HGNC Previous Symbol

C6orf210

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020381.4
p.R349*
c.1045C>T
Surrounding Variants
2 papers
NM_020381.4
p.R349Q
c.1046G>A
1 paper
NM_020381.4
p.K347_L348Splc
c.1042-1G>A
1 paper
NM_020381.4
p.K347_L348Splc
c.1042-2A>G
1 paper
NM_020381.4
p.K347_L348Splc
c.1042-19T>C
1 paper
NM_020381.4
p.C365insFs
c.1094_1095insA
1 paper
NM_020381.4
p.C365*
c.1095T>A
1 paper
NM_020381.4
p.R366C
c.1096C>T
1 paper
NM_020381.4
p.L376P
c.1127T>C
1 paper
NM_020381.4
p.P381fs
c.1141_1142fs
15 papers
NM_020381.4
p.S382L
c.1145C>T
1 paper
NM_020381.4
p.E383E
c.1149G>A
1 paper
NM_020381.4
p.A384V
c.1151C>T
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