Variant ID: 1-55509552-CT-TA

NM_174936.3(PCSK9):c.244_245delinsTA;(p.Leu82*)

This variant was identified in 3 publications




Publications:


PCSK9 as a therapeutic target for cardiovascular disease.

Experimental And Therapeutic Medicine
PY Zhang
Publication Date: 2017-03

Variant appearance in text: PCSK9: L82X
PMID: 28450903
View BVdb publication page



Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: PCSK9: Leu82X
PMID: 21862702
View BVdb publication page



Adaptive genetic variation and heart disease risk.

Current Opinion In Lipidology
LD Parnell, YC Lee, CQ Lai
Publication Date: 2010-04

Variant appearance in text: PCSK9: L82X
PMID: 20154611
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.244_245delinsTA p.Leu82* stop_gained 2/12 -
ENST00000452118.2 c.244_245delinsTA p.Leu82* stop_gained 2/6 -
ENST00000543384.1 c.-78+3476_-78+3477delinsTA - intron_variant - 1/9
NM_174936.4 c.244_245delinsTA p.Leu82* stop_gained 2/12 -
NR_110451.1 n.182+3476_182+3477delinsTA - intron_variant,non_coding_transcript_variant - 1/9