Variant ID: 1-55524172-G-A

NM_174936.3(PCSK9):c.1355G>A;(p.Gly452Asp)

This variant was identified in 1 publication



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

Publications:

Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.

The Journal Of Biological Chemistry
QT Le, M Blanchet, NG Seidah, P Labonté
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: G452D
PubMed Link: 26195630
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1355G>A p.Gly452Asp missense_variant,splice_region_variant 9/12 -
ENST00000490692.1 n.2079G>A - splice_region_variant,non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.703G>A p.Val235Ile missense_variant,splice_region_variant 7/10 -
NM_174936.4 c.1355G>A p.Gly452Asp missense_variant,splice_region_variant 9/12 -
NR_110451.1 n.962G>A - splice_region_variant,non_coding_transcript_exon_variant 7/10 -