KEGG VARIANT: 5058v1

VARIANT: 5058v1

Entry

5058v1                      Variant

Name

PAK1 gain-of-function mutation

Type

Gain of function

Gene

PAK1 p21 (RAC1) activated kinase 1 [KO:K04409]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 602590

Network

nt06546 IgSF CAM signaling

Disease

Syndromic intellectual developmental disorder

Reference

Authors

Harms FL, Kloth K, Bley A, Denecke J, Santer R, Lessel D, Hempel M, Kutsche K

Title

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Journal

Am J Hum Genet 103:579-591 (2018)
DOI:10.1016/j.ajhg.2018.09.005

LinkDB

DBGET integrated database retrieval system