AFG3L2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol AFG3L2
Gene name AFG3-like AAA ATPase 2
Chromosome 18
Chromosomal band p11.21
Imprinted Unknown
Genomic reference NC_000018.9
Transcript reference NM_006796.2
Associated with diseases SCA28
Citation reference(s) -
Curators (0) -
Total number of public variants reported 12
Unique public DNA variants reported 12
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 315
Entrez Gene 10939
PubMed articles AFG3L2
OMIM - Gene 604581
OMIM - Diseases SCA28 (SPINOCEREBELLAR ATAXIA 28)
HGMD AFG3L2
GeneCards AFG3L2
GeneTests AFG3L2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000022 18 AFG3 ATPase family gene 3-like 2 (S. cerevisiae) NM_006796.2 NP_006787.2 12


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium