PIK3R2 gene homepage

General information
Gene symbol PIK3R2
Gene name phosphoinositide-3-kinase, regulatory subunit 2 (beta)
Chromosome 19
Chromosomal band q13.2-q13.4
Imprinted Unknown
Genomic reference NG_033010.1
Transcript reference NM_005027.3
Exon/intron information NM_005027.3 exon/intron table
Associated with diseases ID, MPPH-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 57
Unique public DNA variants reported 36
Individuals with public variants 9
Hidden variants 11
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 27, 2019
Version PIK3R2:190727

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_005027.3.
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 http://www.LOVD.nl/PIK3R2
HGNC 8980
Entrez Gene 5296
PubMed articles PIK3R2
OMIM - Gene 603157
OMIM - Diseases MPPH-1 (megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, type 1 (MPPH-1))
HGMD PIK3R2
GeneCards PIK3R2
GeneTests PIK3R2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024151 19 transcript variant 1 NM_005027.3 NP_005018.1 57


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