Variant ID: 1-55509693-G-A


This variant was identified in 3 publications


Biology of proprotein convertase subtilisin kexin 9: beyond low-density lipoprotein cholesterol lowering.

Cardiovascular Research
GD Norata, H Tavori, A Pirillo, S Fazio, AL Catapano
Publication Date: 2016-10

Variant appearance in text: PCSK9: D129N
PMID: 27496869
View BVdb publication page

Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.

The Journal Of Biological Chemistry
QT Le, M Blanchet, NG Seidah, P Labonté
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: D129N
PMID: 26195630
View BVdb publication page

Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Circulation. Cardiovascular Genetics
Z Ahmad, B Adams-Huet, C Chen, A Garg
Publication Date: 2012-12

Variant appearance in text: PCSK9: 385G>A
PMID: 23064986
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.385G>A p.Asp129Asn missense_variant 2/12 -
ENST00000452118.2 c.385G>A p.Asp129Asn missense_variant 2/6 -
ENST00000543384.1 c.-78+3617G>A - intron_variant - 1/9
NM_174936.4 c.385G>A p.Asp129Asn missense_variant 2/12 -
NR_110451.1 n.182+3617G>A - intron_variant,non_coding_transcript_variant - 1/9