Variant ID: 1-55509544-T-C

NM_174936.3(PCSK9):c.236T>C;(p.Val79Ala)

This variant was identified in 1 publication




Publications:


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: V79A
PMID: 22875854
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.236T>C p.Val79Ala missense_variant 2/12 -
ENST00000452118.2 c.236T>C p.Val79Ala missense_variant 2/6 -
ENST00000543384.1 c.-78+3468T>C - intron_variant - 1/9
NM_174936.4 c.236T>C p.Val79Ala missense_variant 2/12 -
NR_110451.1 n.182+3468T>C - intron_variant,non_coding_transcript_variant - 1/9