Variant ID: 1-55524211-C-T

NM_174936.3(PCSK9):c.1394C>T;(p.Ser465Leu)

This variant was identified in 3 publications



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

Publications:

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature Communications
MT Oetjens, MA Kelly, AC Sturm, CL Martin, DH Ledbetter
Publication Date: 2019-10-25

Variant appearance in text: PCSK9: Ser465Leu
PMID: 31653860
View BVdb publication page


Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Scientific Reports
MD Di Taranto, A Benito-Vicente, C Giacobbe, KB Uribe, P Rubba, A Etxebarria, O Guardamagna, M Gentile, C Martín, G Fortunato
Publication Date: 2017-11-10

Variant appearance in text: PCSK9: 1394C>T; Ser465Leu; rs778849441
PMID: 29127338
View BVdb publication page


Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular Genetics
PN Hopkins, J Defesche, SW Fouchier, E Bruckert, G Luc, B Cariou, B Sjouke, TP Leren, M Harada-Shiba, H Mabuchi, JP Rabès, A Carrié, C van Heyningen, V Carreau, M Farnier, YP Teoh, M Bourbon, MA Kawashiri, A Nohara, H Soran, AD Marais, H Tada, M Abifadel, C Boileau, B Chanu, S Katsuda, I Kishimoto, G Lambert, H Makino, Y Miyamoto, M Pichelin, K Yagi, M Yamagishi, Y Zair, S Mellis, GD Yancopoulos, N Stahl, J Mendoza, Y Du, S Hamon, M Krempf, GD Swergold
Publication Date: 2015-12

Variant appearance in text: PCSK9: Ser465Leu
PMID: 26374825
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1394C>T p.Ser465Leu missense_variant 9/12 -
ENST00000490692.1 n.2118C>T - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.742C>T p.Arg248Trp missense_variant 7/10 -
NM_174936.4 c.1394C>T p.Ser465Leu missense_variant 9/12 -
NR_110451.1 n.1001C>T - non_coding_transcript_exon_variant 7/10 -