Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.S68C

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.S68C
c.202A>T
Surrounding Variants
1 paper
NM_020381.4
p.P63L
c.188C>T
1 paper
NM_020381.4
p.S74R
c.220A>C
1 paper
NM_020381.4
p.S74R
c.222C>G
1 paper
NM_020381.4
p.S74R
c.222C>A
1 paper
NM_020381.4
p.D75N
c.223G>A
1 paper
NM_020381.4
p.V60L
c.178G>T
1 paper
NM_020381.4
p.V60L
c.178G>C
1 paper
NM_020381.4
p.S78G
c.232A>G
1 paper
NM_020381.4
p.A56T
c.166G>A
1 paper
NM_020381.4
p.A81S
c.241G>T
1 paper
NM_020381.4
p.A81T
c.241G>A
1 paper
NM_020381.4
p.S54_E55insTAG
c.160_164ins9
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."