Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.K234_E235Splc

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
1 paper
NM_020381.4
p.K234_E235Splc
c.703-2A>T
Surrounding Variants
1 paper
NM_020381.4
p.K234_E235Splc
c.703-1G>A
1 paper
NM_020381.4
p.K234_E235Splc
c.703-14T>C
1 paper
NM_020381.4
p.T239P
c.715A>C
1 paper
NM_020381.4
p.I242_S245delFs
c.726_735del10
1 paper
NM_020381.4
p.W247S
c.740G>C
3 papers
NM_020381.4
p.W247*
c.740G>A
3 papers
NM_020381.4
p.W247*
c.741G>A
1 paper
NM_020381.4
p.S254P
c.760T>C
1 paper
NM_020381.4
p.G256D
c.767G>A
1 paper
NM_020381.4
p.A257T
c.769G>A
1 paper
NM_020381.4
p.L258V
c.772T>G
1 paper
NM_020381.4
p.K261T
c.782A>C
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