Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.G18_S19ins1

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.G18_S19ins1
c.54_55insTAG
Surrounding Variants
1 paper
NM_020381.4
p.S19F
c.56C>T
1 paper
NM_020381.4
p.G15V
c.44G>T
1 paper
NM_020381.4
p.P27S
c.79C>T
1 paper
NM_020381.4
p.D30insFs
c.88dupG
1 paper
NM_020381.4
p.T31T
c.93C>G
1 paper
NM_020381.4
p.I32L
c.94A>C
1 paper
NM_020381.4
p.R4P
c.11G>C
1 paper
NM_020381.4
p.F3insFs
c.7dupT
1 paper
NM_020381.4
p.F3L
c.9T>G
1 paper
NM_020381.4
p.F3L
c.9T>A
1 paper
NM_020381.4
p.F3L
c.7T>C
1 paper
NM_020381.4
p.V35L
c.103G>T
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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."