The PLCB4 gene homepage

General information
Gene symbol PLCB4
Gene name phospholipase C, beta 4
Chromosome 20
Chromosomal band p12
Imprinted Unknown
Genomic reference NG_032790.2
Transcript reference NM_000933.3, NM_001377142.1
Exon/intron information NM_000933.3 exon/intron table
Associated with diseases ARCND, ARCND2A, ARCND2B, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 30
Unique public DNA variants reported 24
Individuals with public variants 30
Hidden variants 3
Download all this gene's data Download all data
Notes MANE select NM_001377142.1
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated March 22, 2024
Version PLCB4:240322

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_000933.3.
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/PLCB4
HGNC 9059
Entrez Gene 5332
PubMed articles PLCB4
OMIM - Gene 600810
OMIM - Diseases ARCND2A (auriculocondylar syndrome, type 2A)
ARCND2B (auriculocondylar syndrome, type 2B)
HGMD PLCB4
GeneCards PLCB4
GeneTests PLCB4
Orphanet PLCB4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016299 20 transcript variant 1 NM_000933.3 NP_000924.3 30
00025919 20 transcript variant 7 (removed from reference sequence) (removed from reference sequence) NM_001377142.1 NP_001364071.1 2


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