NDUFAF3 gene homepage - MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

NDUFAF3 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information

Gene symbol

NDUFAF3

Gene name

NADH dehydrogenase (ubiquinone) complex I, assembly factor 3

Chromosome

Chromosomal band

p21.31

Imprinted

Unknown

Genomic reference

NC_000003.11

Transcript reference

NM_199069.1, NM_199070.1, NM_199073.1, NM_199074.1

Associated with diseases

252010, 618240

Citation reference(s)

Curators (0)

Total number of public variants reported

Unique public DNA variants reported

Individuals with public variants

Hidden variants

Download all this gene's data

Download all data

Notes

MSeqDR-LSDB

Date created

November 12, 2013

Graphical displays and utilities

Graphs

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

Entrez Gene

PubMed articles

OMIM - Gene

OMIM - Diseases

252010 (Mitochondrial complex I deficiency, 252010 (3))
618240 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18)

HGMD

NDUFAF3

GeneCards

NDUFAF3

GeneTests

NDUFAF3

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000949	3	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3, transcript variant 4	NM_199074.1	NP_951056.1	26
00000950	3	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3, transcript variant 3	NM_199073.1	NP_951047.1	26
00000951	3	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3, transcript variant 1	NM_199069.1	NP_951032.1	26
00000952	3	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3, transcript variant 2	NM_199070.1	NP_951033.1	26

; NuclearMitome http://www.transgenomic.com

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium