Variant ID: 1-55523107-A-C

NM_174936.3(PCSK9):c.1100A>C;(p.Asp367Ala)

This variant was identified in 1 publication



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

Publications:

Identification of a small peptide that inhibits PCSK9 protein binding to the low density lipoprotein receptor.

The Journal Of Biological Chemistry
Y Zhang, C Eigenbrot, L Zhou, S Shia, W Li, C Quan, J Tom, P Moran, P Di Lello, NJ Skelton, M Kong-Beltran, A Peterson, D Kirchhofer
Publication Date: 2014-01-10

Variant appearance in text: PCSK9: D367A
PMID: 24225950
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1100A>C p.Asp367Ala missense_variant 7/12 -
ENST00000490692.1 n.1824A>C - non_coding_transcript_exon_variant 4/8 -
ENST00000543384.1 c.500A>C p.Asp167Ala missense_variant 5/10 -
NM_174936.4 c.1100A>C p.Asp367Ala missense_variant 7/12 -
NR_110451.1 n.759A>C - non_coding_transcript_exon_variant 5/10 -