PIK3CA gene homepage

This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
General information
Gene symbol PIK3CA
Gene name phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
Chromosome 3
Chromosomal band q26.3
Imprinted Unknown
Genomic reference NG_012113.2
Transcript reference NM_006218.2
Exon/intron information NM_006218.2 exon/intron table
Associated with diseases ACLC, cancer, gastric, cancer, liver, cancer, ovarian, CLOVE, CRC, CWS-5, MCAP, cancer, breast, familial, keratosis, seborrheic, nevus, epidermal
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Élodie Fastré, Pascal Brouillard and Mustapha Amyere
Total number of public variants reported 39
Unique public DNA variants reported 31
Individuals with public variants 4
Hidden variants 36
Download all this gene's data Download all data
Notes This database is one of the "Vascular anomalies and lymphedema" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated March 29, 2019
Version PIK3CA:190329

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_006218.2.
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 http://www.LOVD.nl/PIK3CA
External URL Orphanet
HGNC 8975
Entrez Gene 5290
PubMed articles PIK3CA
OMIM - Gene 171834
OMIM - Diseases ACLC (cancer, lung (adenocarcinoma))
cancer, gastric (cancer, gastric (Neoplasm of stomach))
cancer, liver (cancer, hepatocellular)
cancer, ovarian
CLOVE (CLOVE syndrome, somatic (CLOVE, overgrowth, lipomatous, congenital, vascular malformations, and epidermal nevi))
CRC (cancer, colorectal (CRC))
CWS-5 (Cowden syndrome, type 5 (CWS-5))
MCAP (megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (MCAP))
cancer, breast, familial
keratosis, seborrheic
nevus, epidermal
HGMD PIK3CA
GeneCards PIK3CA
GeneTests PIK3CA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016173 3 phosphoinositide-3-kinase, catalytic, alpha polypeptide NM_006218.2 NP_006209.2 39


Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.