PCSK9 c.1928A>G ;(p.H643R)

Variant ID: 1-55529106-A-G

NM_174936.3(PCSK9):c.1928A>G;(p.H643R)

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:

Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Scientific Reports
Di Taranto, Maria Donata MD; Benito-Vicente, Asier A; Giacobbe, Carola C; Uribe, Kepa Belloso KB; Rubba, Paolo P; Etxebarria, Aitor A; Guardamagna, Ornella O; Gentile, Marco M; Martín, Cesar C; Fortunato, Giuliana G
Publication Date: 2017-11-10

Variant appearance in text: PCSK9: His643Arg
PubMed Link: 29127338
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_15543.pdf
View BVdb publication page