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RPL3 c.736_737delinsGC ;(p.R246A)
Variant ID: 22-39710803-CG-GC
NM_000967.3(
RPL3
):c.736_737delinsGC;(p.R246A)
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:
Human METTL18 is a histidine-specific methyltransferase that targets RPL3 and affects ribosome biogenesis and function.
Nucleic Acids Research
Małecki, Jędrzej M JM; Odonohue, Marie-Francoise MF; Kim, Yeji Y; Jakobsson, Magnus E ME; Gessa, Luca L; Pinto, Rita R; Wu, Jie J; Davydova, Erna E; Moen, Anders A; Olsen, Jesper V JV; Thiede, Bernd B; Gleizes, Pierre-Emmanuel PE; Leidel, Sebastian A SA; Falnes, Pål Ø PØ
Publication Date: 2021-04-06
Variant appearance in text: RPL3: R246A
PubMed Link:
33693809
Variant Present in the following documents:
Main text
gkab088.pdf
View BVdb publication page