The NDUFAF3 gene homepage

General information
Gene symbol NDUFAF3
Gene name NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
Chromosome 3
Chromosomal band p21.31
Imprinted Unknown
Genomic reference NG_016282.1
Transcript reference NM_199069.1, NM_199070.1, NM_199073.1, NM_199074.1
Associated with diseases MC1DN
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 86
Unique public DNA variants reported 12
Individuals with public variants 35
Hidden variants -
Date created November 30, -0001
Date last updated September 28, 2016
Version NDUFAF3:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:29918
Entrez Gene 25915
PubMed articles NDUFAF3
OMIM - Gene 612911
OMIM - Diseases MC1DN (mitochondrial complex I deficiency (MC1DN))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00049474 3 transcript variant 4 NM_199074.1 NP_951056.1 86
00049475 3 transcript variant 1 NM_199069.1 NP_951032.1 50
00049476 3 transcript variant 3 NM_199073.1 NP_951047.1 50
00049477 3 transcript variant 2 NM_199070.1 NP_951033.1 50