LONP1 c.721_722delinsGC ;(p.R241A)

Variant ID: 19-5711930-CG-GC

NM_004793.3(LONP1):c.721_722delinsGC;(p.R241A)

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:

Evidence for mitochondrial Lonp1 expression in the nucleus.

Scientific Reports
Gibellini, Lara L; Borella, Rebecca R; De Gaetano, Anna A; Zanini, Giada G; Tartaro, Domenico Lo DL; Carnevale, Gianluca G; Beretti, Francesca F; Losi, Lorena L; De Biasi, Sara S; Nasi, Milena M; Forcato, Mattia M; Cossarizza, Andrea A; Pinti, Marcello M
Publication Date: 2022-06-27

Variant appearance in text: LONP1: R241A
PubMed Link: 35760833
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_14860.pdf
View BVdb publication page