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AVP c.385_386delinsGC ;(p.R129A)
Variant ID: 20-3063385-CG-GC
NM_000490.4(
AVP
):c.385_386delinsGC;(p.R129A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structure and mechanistic features of the prokaryotic minimal RNase P.
Elife
Feyh, Rebecca R; Waeber, Nadine B NB; Prinz, Simone S; Giammarinaro, Pietro Ivan PI; Bange, Gert G; Hochberg, Georg G; Hartmann, Roland K RK; Altegoer, Florian F
Publication Date: 2021-06-28
Variant appearance in text: ADH: R129A
PubMed Link:
34180399
Variant Present in the following documents:
Main text
View BVdb publication page
ATPase-dependent role of the atypical kinase Rio2 on the evolving pre-40S ribosomal subunit.
Nature Structural & Molecular Biology
Ferreira-Cerca, Sébastien S; Sagar, Vatsala V; Schäfer, Thorsten T; Diop, Momar M; Wesseling, Anne-Maria AM; Lu, Haiyun H; Chai, Eileen E; Hurt, Ed E; LaRonde-LeBlanc, Nicole N
Publication Date: 2012-12
Variant appearance in text: ADH: R129A
PubMed Link:
23104056
Variant Present in the following documents:
NIHMS407019-supplement-1.pdf
View BVdb publication page