Variant ID: 1-55529182-C-G

NM_174936.3(PCSK9):c.2004C>G;(p.Ser668Arg)

This variant was identified in 2 publications




Publications:


Cyclase-associated protein 1 is a binding partner of proprotein convertase subtilisin/kexin type-9 and is required for the degradation of low-density lipoprotein receptors by proprotein convertase subtilisin/kexin type-9.

European Heart Journal
HD Jang, SE Lee, J Yang, HC Lee, D Shin, H Lee, J Lee, S Jin, S Kim, SJ Lee, J You, HW Park, KY Nam, SH Lee, SW Park, JS Kim, SY Kim, YW Kwon, SH Kwak, HM Yang, HS Kim
Publication Date: 2019-08-16

Variant appearance in text: PCSK9: S668R
PMID: 31419281
View BVdb publication page



The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

The Journal Of Biological Chemistry
YG Saavedra, R Day, NG Seidah
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: S668R
PMID: 23105118
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.2004C>G p.Ser668Arg missense_variant 12/12 -
ENST00000490692.1 n.2550C>G - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.2004C>G p.Ser668Arg missense_variant 12/12 -
NR_110451.1 n.1611C>G - non_coding_transcript_exon_variant 10/10 -