Variant ID: 1-55525300-CG-GC

NM_174936.3(PCSK9):c.1645_1646delinsGC;(p.Arg549Ala)

This variant was identified in 1 publication



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

Publications:

A proprotein convertase subtilisin-like/kexin type 9 (PCSK9) C-terminal domain antibody antigen-binding fragment inhibits PCSK9 internalization and restores low density lipoprotein uptake.

The Journal Of Biological Chemistry
YG Ni, JH Condra, L Orsatti, X Shen, S Di Marco, S Pandit, MJ Bottomley, L Ruggeri, RT Cummings, RM Cubbon, JC Santoro, A Ehrhardt, D Lewis, TS Fisher, S Ha, L Njimoluh, DD Wood, HA Hammond, D Wisniewski, C Volpari, A Noto, P Lo Surdo, B Hubbard, A Carfí, A Sitlani
Publication Date: 2010-04-23

Variant appearance in text: PCSK9: R549A
PMID: 20172854
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1645_1646delinsGC p.Arg549Ala missense_variant 10/12 -
ENST00000490692.1 n.2227+980_2227+981delinsGC - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*192_*193delinsGC - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1645_1646delinsGC p.Arg549Ala missense_variant 10/12 -
NR_110451.1 n.1252_1253delinsGC - non_coding_transcript_exon_variant 8/10 -