Varaico: Literature-Extracted Genetic Variants

Gene:PDSS1
Variant:p.E386G

PDSS1

97 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the format...

Pfam Domains

polyprenyl_syntaa 118–367UCSCPolyprenyl synthetase

Gene Aliases

HGNC Name

decaprenyl diphosphate synthase subunit 1

HGNC Previous Symbol

TPRT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_014317.5
p.E386G
c.1157A>G
Surrounding Variants
1 paper
NM_014317.5
p.I388_R389delFs
c.1164_1165delAA
1 paper
NM_014317.5
p.Y383C
c.1148A>G
1 paper
NM_014317.5
p.I391insFs
c.1173dupC
3 papers
NM_014317.5
p.A380T
c.1138G>A
1 paper
NM_014317.5
p.Y378*
c.1134C>A
1 paper
NM_014317.5
p.Y378*
c.1134C>G
4 papers
NM_014317.5
p.R395*
c.1183C>T
1 paper
NM_014317.5
p.T376P
c.1126A>C
1 paper
NM_014317.5
p.T376_T377insFs
c.1126_1129dup4
1 paper
NM_014317.5
p.Q374*
c.1120C>T
1 paper
NM_014317.5
p.V373_Q374ins0
c.1118_1120dupTGC
1 paper
NM_014317.5
p.D371E
c.1113T>A
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."