KEGG VARIANT: 5286v1

VARIANT: 5286v1

Entry

5286v1                      Variant

Name

PIK3C2A mutation

Type

Loss of function

Gene

PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha [KO:K00923]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 603601

Network

nt06515 Regulation of kinetochore-microtubule interactions

Disease

H02595

Oculoskeletodental syndrome

Reference

PMID:31034465

Authors

Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA

Title

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

Journal

PLoS Genet 15:e1008088 (2019)
DOI:10.1371/journal.pgen.1008088

LinkDB

DBGET integrated database retrieval system