Variant ID: 1-55518043-G-A


This variant was identified in 1 publication


Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Lipids In Health And Disease
J Mayne, TC Ooi, A Raymond, M Cousins, L Bernier, T Dewpura, F Sirois, M Mbikay, J Davignon, M Chr├ętien
Publication Date: 2013-05-10

Variant appearance in text: PCSK9: E206K
PMID: 23663650
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.616G>A p.Glu206Lys missense_variant 4/12 -
ENST00000452118.2 c.*260G>A - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1437G>A - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.16G>A p.Glu6Lys missense_variant 2/10 -
NM_174936.4 c.616G>A p.Glu206Lys missense_variant 4/12 -
NR_110451.1 n.275G>A - non_coding_transcript_exon_variant 2/10 -