Variant ID: 1-55523127-G-A

NM_174936.3(PCSK9):c.1120G>A;(p.Asp374Asn)

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: D374N
PMID: 22875854
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1120G>A p.Asp374Asn missense_variant 7/12 -
ENST00000490692.1 n.1844G>A - non_coding_transcript_exon_variant 4/8 -
ENST00000543384.1 c.520G>A p.Asp174Asn missense_variant 5/10 -
NM_174936.4 c.1120G>A p.Asp374Asn missense_variant 7/12 -
NR_110451.1 n.779G>A - non_coding_transcript_exon_variant 5/10 -