GTPBP3 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol GTPBP3
Gene name GTP binding protein 3 (mitochondrial)
Chromosome 19
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NC_000019.9
Transcript reference NM_001128855.2, NM_001195422.1, NM_032620.3, NM_133644.3, XM_005260120.1, XM_005260121.1, XM_005260122.1
Associated with diseases 616198
Citation reference(s) -
Curators (0) -
Total number of public variants reported 10
Unique public DNA variants reported 10
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 15, 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 14880
Entrez Gene 84705
PubMed articles GTPBP3
OMIM - Gene 608536
OMIM - Diseases 616198 (Combined oxidative phosphorylation deficiency 23, 616198 (3))
HGMD GTPBP3
GeneCards GTPBP3
GeneTests GTPBP3


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00002000 19 transcript variant X1 XM_005260120.1 XP_005260177.1 10
00002001 19 transcript variant X2 XM_005260121.1 XP_005260178.1 10
00002002 19 transcript variant X3 XM_005260122.1 XP_005260179.1 10
00002003 19 transcript variant VII NM_001195422.1 NP_001182351.1 10
00002004 19 transcript variant IV NM_133644.3 NP_598399.2 10
00002005 19 transcript variant V NM_032620.3 NP_116009.2 10
00002006 19 transcript variant III NM_001128855.2 NP_001122327.1 10


Copyright & disclaimer
; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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