Variant ID: 1-55523037-C-A

NM_174936.3(PCSK9):c.1030C>A;(p.Gln344Lys)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar

Publications:

Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
CW Tsai, KE North, A Tin, K Haack, N Franceschini, V Saroja Voruganti, S Laston, Y Zhang, LG Best, JW MacCluer, TH Beaty, A Navas-Acien, WH Kao, BV Howard
Publication Date: 2015-02

Variant appearance in text: PCSK9: Q344K
PMID: 25412415
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1030C>A p.Gln344Lys missense_variant 7/12 -
ENST00000490692.1 n.1818-64C>A - intron_variant,non_coding_transcript_variant - 3/7
ENST00000543384.1 c.430C>A p.Gln144Lys missense_variant 5/10 -
NM_174936.4 c.1030C>A p.Gln344Lys missense_variant 7/12 -
NR_110451.1 n.689C>A - non_coding_transcript_exon_variant 5/10 -