Variant ID: 1-55518079-AGA-CAT


This variant was identified in 1 publication


Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.

Molecular Genetics And Metabolism Reports
L Wierød, J Cameron, TB Strøm, TP Leren
Publication Date: 2016-12

Variant appearance in text: PCSK9: R218H
PMID: 27896130
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.652_654delinsCAT p.Arg218His missense_variant 4/12 -
ENST00000452118.2 c.*296_*298delinsCAT - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1473_1475delinsCAT - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.52_54delinsCAT p.Arg18His missense_variant 2/10 -
NM_174936.4 c.652_654delinsCAT p.Arg218His missense_variant 4/12 -
NR_110451.1 n.311_313delinsCAT - non_coding_transcript_exon_variant 2/10 -