Variant ID: 1-55518082-C-G


This variant was identified in 1 publication


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: Q219E
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.655C>G p.Gln219Glu missense_variant,splice_region_variant 4/12 -
ENST00000452118.2 c.*299C>G - splice_region_variant,3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1476C>G - splice_region_variant,non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.55C>G p.Gln19Glu missense_variant,splice_region_variant 2/10 -
NM_174936.4 c.655C>G p.Gln219Glu missense_variant,splice_region_variant 4/12 -
NR_110451.1 n.314C>G - splice_region_variant,non_coding_transcript_exon_variant 2/10 -