PCSK9 c.1948_1950delinsATG ;(p.V650M)

Variant ID: 1-55529126-GTA-ATG

NM_174936.3(PCSK9):c.1948_1950delinsATG;(p.V650M)

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:

Sortilin enhances secretion of apolipoprotein(a) through effects on apolipoprotein B secretion and promotes uptake of lipoprotein(a).

Journal Of Lipid Research
Clark, Justin R JR; Gemin, Matthew M; Youssef, Amer A; Marcovina, Santica M SM; Prat, Annik A; Seidah, Nabil G NG; Hegele, Robert A RA; Boffa, Michael B MB; Koschinsky, Marlys L ML
Publication Date: 2022-06

Variant appearance in text: PCSK9: V650M
PubMed Link: 35469919
Variant Present in the following documents:
  • main.pdf
View BVdb publication page