The NUBPL gene homepage

General information
Gene symbol NUBPL
Gene name nucleotide binding protein-like
Chromosome 14
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_028349.1
Transcript reference NM_001201573.1, NM_001201574.1, NM_025152.2, XM_005268099.2
Associated with diseases MC1DN
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 21
Unique public DNA variants reported 5
Individuals with public variants 23
Hidden variants 80
Date created November 30, -0001
Date last updated September 28, 2016
Version NUBPL: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:20278
Entrez Gene 80224
PubMed articles NUBPL
OMIM - Gene 613621
OMIM - Diseases MC1DN (mitochondrial complex I deficiency (MC1DN))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00013123 14 transcript variant 1 NM_025152.2 NP_079428.2 21
00013124 14 transcript variant 2 NM_001201573.1 NP_001188502.1 21
00013125 14 transcript variant 3 NM_001201574.1 NP_001188503.1 12
00036286 14 transcript variant X1 XM_005268099.2 XP_005268156.1 -