Variant ID: 1-55527104-AG-GC

NM_174936.3(PCSK9):c.1738_1739delinsGC;(p.Arg580Ala)

This variant was identified in 1 publication




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 CarfĂ­, A Sitlani
Publication Date: 2010-04-23

Variant appearance in text: PCSK9: R580A
PMID: 20172854
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1738_1739delinsGC p.Arg580Ala missense_variant 11/12 -
ENST00000490692.1 n.2284_2285delinsGC - non_coding_transcript_exon_variant 7/8 -
ENST00000543384.1 c.*285_*286delinsGC - 3_prime_UTR_variant 9/10 -
NM_174936.4 c.1738_1739delinsGC p.Arg580Ala missense_variant 11/12 -
NR_110451.1 n.1345_1346delinsGC - non_coding_transcript_exon_variant 9/10 -