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PCSK9 c.1391A>G ;(p.H464R)
Variant ID: 1-55524208-A-G
NM_174936.3(
PCSK9
):c.1391A>G;(p.H464R)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of roles for H264, H306, H439, and H635 in acid-dependent lipoprotein release by the LDL receptor.
Journal Of Lipid Research
Dong, Hongyun H; Zhao, Zhenze Z; LeBrun, Drake G DG; Michaely, Peter P
Publication Date: 2017-02
Variant appearance in text: PCSK9: H464R
PubMed Link:
27895090
Variant Present in the following documents:
Main text
View BVdb publication page