Variant ID: 1-55509547-T-C


This variant was identified in 1 publication


Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
S Benjannet, J Hamelin, M Chr├ętien, NG Seidah
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: V80A
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.239T>C p.Val80Ala missense_variant 2/12 -
ENST00000452118.2 c.239T>C p.Val80Ala missense_variant 2/6 -
ENST00000543384.1 c.-78+3471T>C - intron_variant - 1/9
NM_174936.4 c.239T>C p.Val80Ala missense_variant 2/12 -
NR_110451.1 n.182+3471T>C - intron_variant,non_coding_transcript_variant - 1/9