Variant ID: 1-55524208-A-G

NM_174936.3(PCSK9):c.1391A>G;(p.His464Arg)

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 roles for H264, H306, H439, and H635 in acid-dependent lipoprotein release by the LDL receptor.

Journal Of Lipid Research
H Dong, Z Zhao, DG LeBrun, P Michaely
Publication Date: 2017-02

Variant appearance in text: PCSK9: H464R
PMID: 27895090
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1391A>G p.His464Arg missense_variant 9/12 -
ENST00000490692.1 n.2115A>G - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.739A>G p.Thr247Ala missense_variant 7/10 -
NM_174936.4 c.1391A>G p.His464Arg missense_variant 9/12 -
NR_110451.1 n.998A>G - non_coding_transcript_exon_variant 7/10 -