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PCSK9 c.1645_1647delinsTGG ;(p.R549W)
Variant ID: 1-55525300-CGT-TGG
NM_174936.3(
PCSK9
):c.1645_1647delinsTGG;(p.R549W)
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:
The ABCs of the atypical Fam20 secretory pathway kinases.
The Journal Of Biological Chemistry
Worby, Carolyn A CA; Mayfield, Joshua E JE; Pollak, Adam J AJ; Dixon, Jack E JE; Banerjee, Sourav S
Publication Date: 2021
Variant appearance in text: PCSK9: R549W
PubMed Link:
33759783
Variant Present in the following documents:
Main text
View BVdb publication page