Variant ID: 1-55521831-C-A

NM_174936.3(PCSK9):c.965C>A;(p.Ala322Asp)

This variant was identified in 1 publication



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

Publications:

Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR.

Human Molecular Genetics
TB Strøm, JK Laerdahl, TP Leren
Publication Date: 2015-10-15

Variant appearance in text: PCSK9: A322D
PubMed Link: 26220972
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.965C>A p.Ala322Asp missense_variant 6/12 -
ENST00000490692.1 n.1786C>A - non_coding_transcript_exon_variant 3/8 -
ENST00000543384.1 c.365C>A p.Ala122Asp missense_variant 4/10 -
NM_174936.4 c.965C>A p.Ala322Asp missense_variant 6/12 -
NR_110451.1 n.624C>A - non_coding_transcript_exon_variant 4/10 -