PLA2G6 gene homepage

General information
Gene symbol PLA2G6
Gene name phospholipase A2, group VI (cytosolic, calcium-independent)
Chromosome 22
Chromosomal band q13.1
Imprinted Unknown
Genomic reference NG_007094.2
Transcript reference NM_003560.2
Exon/intron information NM_003560.2 exon/intron table
Associated with diseases ID, NBIA-2A, NBIA-2B, PARK-14
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (4) Danielle Crompton, Manju Kurian, Derek Lim and Sue Richards
Total number of public variants reported 167
Unique public DNA variants reported 138
Individuals with public variants 143
Hidden variants 0
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 March 29, 2010
Date last updated September 03, 2018
Version PLA2G6:180903

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_003560.2.
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/PLA2G6
External URL Orphanet
HGNC 9039
Entrez Gene 8398
PubMed articles PLA2G6
OMIM - Gene 603604
OMIM - Diseases NBIA-2A (neurodegeneration, with brain iron accumulation, type 2A (NBIA-2A, infantile neuroaxonal dystrophy, type 1))
NBIA-2B (neurodegeneration, with brain iron accumulation, type 2B (NBIA-2B))
PARK-14 (Parkinson disease, type 14 (PARK-14))
HGMD PLA2G6
GeneCards PLA2G6
GeneTests PLA2G6


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024274 22 transcript variant 1 NM_003560.2 NP_003551.2 167


Copyright & disclaimer
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