RAC3 Chromosome 17
Rac family small GTPase 3
Upload your DNA to see your personal genotypes for variants in RAC3.
What This Gene Does
The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
"Rho family GTPases|Receptor ligands"
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000169750
Associated Conditions (6)
Distal shortening of limbs
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Abnormal brain morphology
Intellectual disability
See cases
RAC3-related disorder
Key Variants
RS1379395211
Conflicting classifications of pathogenicity
Distal shortening of limbs, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Distal shortening of limbs
Health Risk
RS143136523
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Health Risk
RS1568018697
Likely pathogenic
Abnormal brain morphology, Intellectual disability, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Health Risk
RS2043431490
Likely pathogenic
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Health Risk
RS2043443828
Likely pathogenic
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Health Risk
RS2043443851
Likely pathogenic
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Health Risk
RS945470080
Likely pathogenic
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Health Risk
RS1064797229
Pathogenic
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, See cases, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Health Risk
RS2510196039
Pathogenic
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Health Risk
RS1568018920
Pathogenic; association
Abnormal brain morphology, Intellectual disability, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Health Risk
RS546702613
Pathogenic/Likely pathogenic
RAC3-related disorder, RAC3-related disorder
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1379395211 | Health Risk | Conflicting classifications of pathogenicity | Distal shortening of limbs, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Distal shortening of limbs |
| RS143136523 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies |
| RS1568018697 | Health Risk | Likely pathogenic | Abnormal brain morphology, Intellectual disability, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies |
| RS2043431490 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies |
| RS2043443828 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies |
| RS2043443851 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies |
| RS945470080 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies |
| RS1064797229 | Health Risk | Pathogenic | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, See cases, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies |
| RS2510196039 | Health Risk | Pathogenic | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies |
| RS1568018920 | Health Risk | Pathogenic; association | Abnormal brain morphology, Intellectual disability, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies |
| RS546702613 | Health Risk | Pathogenic/Likely pathogenic | RAC3-related disorder, RAC3-related disorder |