Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.K179E

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.K179E
c.535A>G
Surrounding Variants
1 paper
NM_020381.4
p.K179T
c.536A>C
1 paper
NM_020381.4
p.D180H
c.538G>C
2 papers
NM_020381.4
p.L178L
c.532C>T
1 paper
NM_020381.4
p.G184G
c.552A>C
1 paper
NM_020381.4
p.Q172*
c.514C>T
1 paper
NM_020381.4
p.N167S
c.500A>G
1 paper
NM_020381.4
p.S191N
c.572G>A
2 papers
NM_020381.4
p.R163H
c.488G>A
2 papers
NM_020381.4
p.H162R
c.485A>G
1 paper
NM_020381.4
p.H162P
c.485A>C
1 paper
NM_020381.4
p.H162Y
c.484C>T
1 paper
NM_020381.4
p.A197E
c.590C>A
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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."