Variant ID: 1-55524255-G-A


This variant was identified in 1 publication


Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
S Benjannet, J Hamelin, M Chr├ętien, NG Seidah
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: D480N
PMID: 22875854
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1438G>A p.Asp480Asn missense_variant 9/12 -
ENST00000490692.1 n.2162G>A - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.786G>A p.Gln262= synonymous_variant 7/10 -
NM_174936.4 c.1438G>A p.Asp480Asn missense_variant 9/12 -
NR_110451.1 n.1045G>A - non_coding_transcript_exon_variant 7/10 -