Variant ID: 1-55509547-T-C

NM_174936.3(PCSK9):c.239T>C;(p.Val80Ala)

This variant was identified in 1 publication



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

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 Chrétien, NG Seidah
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: V80A
PMID: 22875854
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