The BCAT2 gene homepage

General information
Gene symbol BCAT2
Gene name branched chain amino-acid transaminase 2, mitochondrial
Chromosome 19
Chromosomal band -
Imprinted Unknown
Genomic reference NG_013003.1
Transcript reference NM_001190.3
Exon/intron information NM_001190.3 exon/intron table
Associated with diseases HVLI
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 1
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated July 16, 2020
Version BCAT2:200716

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001190.3.
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
Homepage URL https://www.LOVD.nl/BCAT2
HGNC 977
Entrez Gene 587
PubMed articles BCAT2
OMIM - Gene 113530
OMIM - Diseases HVLI (?Hypervalinemia or hyperleucine-isoleucinemia)
HGMD BCAT2
GeneCards BCAT2
GeneTests BCAT2
Orphanet BCAT2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025322 19 transcript variant a NM_001190.3 NP_001181.2 2


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