Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.S43del1

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.S43del1
c.127_128delGGA
Surrounding Variants
1 paper
NM_020381.4
p.A47V
c.140C>T
1 paper
NM_020381.4
p.H48_W49delFs
c.144_145delAG
1 paper
NM_020381.4
p.S37_W38delFs
c.111_112delAA
2 papers
NM_020381.4
p.V52A
c.155T>C
1 paper
NM_020381.4
p.V35L
c.103G>T
1 paper
NM_020381.4
p.V35L
c.103G>C
1 paper
NM_020381.4
p.V53E
c.158T>A
1 paper
NM_020381.4
p.S54_E55insTAG
c.160_164ins9
1 paper
NM_020381.4
p.A56T
c.166G>A
1 paper
NM_020381.4
p.I32L
c.94A>C
1 paper
NM_020381.4
p.T31T
c.93C>G
1 paper
NM_020381.4
p.D30insFs
c.88dupG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."