PCSK9 c.652_654delinsCAT ;(p.R218H)

Variant ID: 1-55518079-AGA-CAT

NM_174936.3(PCSK9):c.652_654delinsCAT;(p.R218H)

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:

Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.

Molecular Genetics And Metabolism Reports
Wierød, Lene L; Cameron, Jamie J; Strøm, Thea Bismo TB; Leren, Trond P TP
Publication Date: 2016-12

Variant appearance in text: PCSK9: R218H
PubMed Link: 27896130
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page