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 14
Unique public DNA variants reported 14
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 14


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

  Powered by LOVD v.3.0 Build 21
LOVD software ©2004-2018 Leiden University Medical Center