Variant ID: 1-55518077-A-G

NM_174936.3(PCSK9):c.650A>G;(p.His217Arg)

This variant was identified in 1 publication




Publications:


Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.

The Journal Of Biological Chemistry
S Benjannet, YG Saavedra, J Hamelin, MC Asselin, R Essalmani, A Pasquato, P Lemaire, G Duke, B Miao, F Duclos, R Parker, G Mayer, NG Seidah
Publication Date: 2010-12-24

Variant appearance in text: PCSK9: H217R
PMID: 20937814
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.650A>G p.His217Arg missense_variant 4/12 -
ENST00000452118.2 c.*294A>G - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1471A>G - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.50A>G p.His17Arg missense_variant 2/10 -
NM_174936.4 c.650A>G p.His217Arg missense_variant 4/12 -
NR_110451.1 n.309A>G - non_coding_transcript_exon_variant 2/10 -