Variant ID: 1-55524256-A-G


This variant was identified in 1 publication


Self-association of human PCSK9 correlates with its LDLR-degrading activity.

D Fan, PG Yancey, S Qiu, L Ding, EJ Weeber, MF Linton, S Fazio
Publication Date: 2008-02-12

Variant appearance in text: PCSK9: D480G
PMID: 18197702
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1439A>G p.Asp480Gly missense_variant 9/12 -
ENST00000490692.1 n.2163A>G - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.787A>G p.Met263Val missense_variant 7/10 -
NM_174936.4 c.1439A>G p.Asp480Gly missense_variant 9/12 -
NR_110451.1 n.1046A>G - non_coding_transcript_exon_variant 7/10 -