Variant ID: 1-55518381-C-A

NM_174936.3(PCSK9):c.716C>A;(p.Ala239Asp)

This variant was identified in 1 publication




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: A239D
PMID: 26195630
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.716C>A p.Ala239Asp missense_variant 5/12 -
ENST00000452118.2 c.*360C>A - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1537C>A - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.116C>A p.Ala39Asp missense_variant 3/10 -
NM_174936.4 c.716C>A p.Ala239Asp missense_variant 5/12 -
NR_110451.1 n.375C>A - non_coding_transcript_exon_variant 3/10 -