Variant ID: 1-55523076-C-T

NM_174936.3(PCSK9):c.1069C>T;(p.Arg357Cys)

This variant was identified in 2 publications




Publications:


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: 1069C>T; Arg357Cys; rs148562777
PMID: 29127338
View BVdb publication page



PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers In Genetics
NT Tran, S Aslibekyan, HK Tiwari, D Zhi, YJ Sung, SC Hunt, DC Rao, U Broeckel, SE Judd, P Muntner, ST Kent, DK Arnett, MR Irvin
Publication Date: 2015

Variant appearance in text: PCSK9: 1069C>T; R357C
PMID: 25904937
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1069C>T p.Arg357Cys missense_variant 7/12 -
ENST00000490692.1 n.1818-25C>T - intron_variant,non_coding_transcript_variant - 3/7
ENST00000543384.1 c.469C>T p.Arg157Cys missense_variant 5/10 -
NM_174936.4 c.1069C>T p.Arg357Cys missense_variant 7/12 -
NR_110451.1 n.728C>T - non_coding_transcript_exon_variant 5/10 -