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PCSK9 c.1528_1530delinsTGT ;(p.R510C)
Variant ID: 1-55525183-CGG-TGT
NM_174936.3(
PCSK9
):c.1528_1530delinsTGT;(p.R510C)
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: R510C
PubMed Link:
33759783
Variant Present in the following documents:
Main text
View BVdb publication page