PAK3 Chromosome X
P21 (RAC1) activated kinase 3
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What This Gene Does
The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of a non-syndromic form of X-linked intellectual disability. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2017]
Associated Conditions (9)
Intellectual disability
X-linked 30
PAK3-related disorder
Inborn genetic diseases
History of neurodevelopmental disorder
Thyroid cancer
nonmedullary
1
Microcephaly
Key Variants
RS1429686948
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 30, Intellectual disability
Health Risk
RS1569398769
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 30, Intellectual disability
Health Risk
RS200474454
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 30, PAK3-related disorder
Health Risk
RS367901722
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS770793505
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS962885211
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 30, Intellectual disability
Health Risk
RS1556298136
Likely pathogenic
Health Risk
RS1556298855
Likely pathogenic
Health Risk
RS1569398792
Likely pathogenic
History of neurodevelopmental disorder, History of neurodevelopmental disorder
Health Risk
RS1569459580
Likely pathogenic
Intellectual disability, Thyroid cancer, nonmedullary
Health Risk
RS1603377813
Likely pathogenic
Intellectual disability, X-linked 30, Intellectual disability
Health Risk
RS1603378331
Likely pathogenic
Intellectual disability, X-linked 30, Intellectual disability
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1429686948 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 30, Intellectual disability |
| RS1569398769 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 30, Intellectual disability |
| RS200474454 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 30, PAK3-related disorder |
| RS367901722 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770793505 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS962885211 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 30, Intellectual disability |
| RS1556298136 | Health Risk | Likely pathogenic | — |
| RS1556298855 | Health Risk | Likely pathogenic | — |
| RS1569398792 | Health Risk | Likely pathogenic | History of neurodevelopmental disorder, History of neurodevelopmental disorder |
| RS1569459580 | Health Risk | Likely pathogenic | Intellectual disability, Thyroid cancer, nonmedullary |
| RS1603377813 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 30, Intellectual disability |
| RS1603378331 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 30, Intellectual disability |
| RS2093969640 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 30, Intellectual disability |
| RS2523366577 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 30, Intellectual disability |
| RS2523369005 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 30, Intellectual disability |
| RS2523686609 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 30, Intellectual disability |
| RS2524160037 | Health Risk | Likely pathogenic | — |
| RS2524214246 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 30, Intellectual disability |
| RS121434611 | Health Risk | Pathogenic | Intellectual disability, X-linked 30, Intellectual disability |
| RS121434612 | Health Risk | Pathogenic | Intellectual disability, X-linked 30, Intellectual disability |
| RS121434613 | Health Risk | Pathogenic | Intellectual disability, X-linked 30, Intellectual disability |
| RS121434614 | Health Risk | Pathogenic | Intellectual disability, X-linked 30, Intellectual disability |
| RS1603373827 | Health Risk | Pathogenic | Microcephaly, Intellectual disability, Microcephaly |
| RS2094208830 | Health Risk | Pathogenic | — |
| RS2523684857 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2149325212 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 30, Intellectual disability |
| RS780775497 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 30, Intellectual disability |