Variant ID: 1-55525252-AA-GC

NM_174936.3(PCSK9):c.1597_1598delinsGC;(p.Asn533Ala)

This variant was identified in 2 publications




Publications:


A proprotein convertase subtilisin/kexin type 9 neutralizing antibody reduces serum cholesterol in mice and nonhuman primates.

Proceedings Of The National Academy Of Sciences Of The United States Of America
JC Chan, DE Piper, Q Cao, D Liu, C King, W Wang, J Tang, Q Liu, J Higbee, Z Xia, Y Di, S Shetterly, Z Arimura, H Salomonis, WG Romanow, ST Thibault, R Zhang, P Cao, XP Yang, T Yu, M Lu, MW Retter, G Kwon, K Henne, O Pan, MM Tsai, B Fuchslocher, E Yang, L Zhou, KJ Lee, M Daris, J Sheng, Y Wang, WD Shen, WC Yeh, M Emery, NP Walker, B Shan, M Schwarz, SM Jackson
Publication Date: 2009-06-16

Variant appearance in text: PCSK9: N533A
PMID: 19443683
View BVdb publication page



The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
NG Seidah, S Benjannet, L Wickham, J Marcinkiewicz, SB Jasmin, S Stifani, A Basak, A Prat, M Chretien
Publication Date: 2003-02-04

Variant appearance in text: NARC-1: N533A
PMID: 12552133
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1597_1598delinsGC p.Asn533Ala missense_variant 10/12 -
ENST00000490692.1 n.2227+932_2227+933delinsGC - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*144_*145delinsGC - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1597_1598delinsGC p.Asn533Ala missense_variant 10/12 -
NR_110451.1 n.1204_1205delinsGC - non_coding_transcript_exon_variant 8/10 -