Variant ID: 1-55524214-G-A

NM_174936.3(PCSK9):c.1397G>A;(p.Gly466Glu)

This variant was identified in 2 publications



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

Publications:

Identifying individual risk rare variants using protein structure guided local tests (POINT).

Plos Computational Biology
R Marceau West, W Lu, DM Rotroff, MA Kuenemann, SM Chang, MC Wu, MJ Wagner, JB Buse, AA Motsinger-Reif, D Fourches, JY Tzeng
Publication Date: 2019-02

Variant appearance in text: rs72646517
PMID: 30779729
View BVdb publication page


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: G466E
PMID: 25412415
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1397G>A p.Gly466Glu missense_variant 9/12 -
ENST00000490692.1 n.2121G>A - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.745G>A p.Gly249Ser missense_variant 7/10 -
NM_174936.4 c.1397G>A p.Gly466Glu missense_variant 9/12 -
NR_110451.1 n.1004G>A - non_coding_transcript_exon_variant 7/10 -