PCSK9 c.440C>G ;(p.S147C)

Variant ID: 1-55512236-C-G

NM_174936.3(PCSK9):c.440C>G;(p.S147C)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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
Chorba, John S JS; Galvan, Adri M AM; Shokat, Kevan M KM
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