Variant ID: 1-55529211-G-A

NM_174936.3(PCSK9):c.2033G>A;(p.Cys678Tyr)

This variant was identified in 2 publications



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

Publications:

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: PCSK9: C678Y
PMID: 21862702
View BVdb publication page


Regulation of ApoB secretion by the low density lipoprotein receptor requires exit from the endoplasmic reticulum and interaction with ApoE or ApoB.

The Journal Of Biological Chemistry
DA Blasiole, AT Oler, AD Attie
Publication Date: 2008-04-25

Variant appearance in text: PCSK9: C678Y
PMID: 18272520
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.2033G>A p.Cys678Tyr missense_variant 12/12 -
ENST00000490692.1 n.2579G>A - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.2033G>A p.Cys678Tyr missense_variant 12/12 -
NR_110451.1 n.1640G>A - non_coding_transcript_exon_variant 10/10 -