Variant ID: 1-55512299-C-A

NM_174936.3(PCSK9):c.503C>A;(p.Ala168Glu)

This variant was identified in 2 publications




Publications:


PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Q Guo, X Feng, Y Zhou
Publication Date: 2020

Variant appearance in text: PCSK9: A168E
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal Of Biological Chemistry
JS Chorba, AM Galvan, KM Shokat
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: A168E
PubMed Link: 29259136
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.503C>A p.Ala168Glu missense_variant 3/12 -
ENST00000452118.2 c.503C>A p.Ala168Glu missense_variant 3/6 -
ENST00000543384.1 c.-77-5652C>A - intron_variant - 1/9
NM_174936.4 c.503C>A p.Ala168Glu missense_variant 3/12 -
NR_110451.1 n.183-5652C>A - intron_variant,non_coding_transcript_variant - 1/9