Variant ID: 1-55512236-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: S147C
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.440C>G p.Ser147Cys missense_variant 3/12 -
ENST00000452118.2 c.440C>G p.Ser147Cys missense_variant 3/6 -
ENST00000543384.1 c.-77-5715C>G - intron_variant - 1/9
NM_174936.4 c.440C>G p.Ser147Cys missense_variant 3/12 -
NR_110451.1 n.183-5715C>G - intron_variant,non_coding_transcript_variant - 1/9