The RTN4IP1 gene homepage

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A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
 
General information
Gene symbol RTN4IP1
Gene name reticulon 4 interacting protein 1
Chromosome 6
Chromosomal band q21
Imprinted Unknown
Genomic reference NG_047205.1
Transcript reference NM_032730.4
Exon/intron information NM_032730.4 exon/intron table
Associated with diseases neuropathy, optic, OPA, OPA10
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Marc Ferre
Total number of public variants reported 76
Unique public DNA variants reported 40
Individuals with public variants 49
Hidden variants -
Download all this gene's data Download all data
Notes The Reticulon 4 interacting protein 1 gene (RTN4IP1; MIM# 610502) is located on chromosome 6q21 and includes 9 translated exons  encoding Reticulon-4-interacting protein 1, mitochondrial, a mitochondrial targeted protein with a quinone oxidoreductase activity.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated March 08, 2024
Version RTN4IP1:240308

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_032730.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/RTN4IP1
HGNC 18647
Entrez Gene 84816
PubMed articles RTN4IP1
OMIM - Gene 610502
OMIM - Diseases OPA10 (atrophy, optic, type 10, with/without ataxia, mental retardation, and seizures (OPA-10))
HGMD RTN4IP1
GeneCards RTN4IP1
GeneTests RTN4IP1
Orphanet RTN4IP1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018293 6 reticulon 4 interacting protein 1 NM_032730.4 NP_116119.2 76


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