RAB27A Chromosome 15
RAB27A, member RAS oncogene family
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What This Gene Does
The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
RAB, member RAS oncogene GTPases
Locus Type
gene with protein product
Location
15q21.3
Ensembl
ENSG00000069974
Associated Conditions (7)
Griscelli syndrome type 2
Inborn genetic diseases
Autoinflammatory syndrome
RAB27A-related disorder
Multisystem inflammatory syndrome in children
See cases
Griscelli syndrome
Key Variants
RS1197622697
Conflicting classifications of pathogenicity
Griscelli syndrome type 2, Inborn genetic diseases, Griscelli syndrome type 2
Health Risk
RS140640177
Conflicting classifications of pathogenicity
Griscelli syndrome type 2, Inborn genetic diseases, Griscelli syndrome type 2
Health Risk
RS141281020
Conflicting classifications of pathogenicity
Griscelli syndrome type 2, Autoinflammatory syndrome, Griscelli syndrome type 2
Health Risk
RS150463407
Conflicting classifications of pathogenicity
Griscelli syndrome type 2, Autoinflammatory syndrome, Griscelli syndrome type 2
Health Risk
RS151048993
Conflicting classifications of pathogenicity
Griscelli syndrome type 2, Inborn genetic diseases, Griscelli syndrome type 2
Health Risk
RS182849552
Conflicting classifications of pathogenicity
Griscelli syndrome type 2, Autoinflammatory syndrome, RAB27A-related disorder
Health Risk
RS199702031
Conflicting classifications of pathogenicity
Griscelli syndrome type 2, Griscelli syndrome type 2
Health Risk
RS201697259
Conflicting classifications of pathogenicity
Griscelli syndrome type 2, Autoinflammatory syndrome, Griscelli syndrome type 2
Health Risk
RS376232909
Conflicting classifications of pathogenicity
Griscelli syndrome type 2, Griscelli syndrome type 2
Health Risk
RS554967424
Conflicting classifications of pathogenicity
Griscelli syndrome type 2, Inborn genetic diseases, Griscelli syndrome type 2
Health Risk
RS753732362
Conflicting classifications of pathogenicity
Griscelli syndrome type 2, Autoinflammatory syndrome, Griscelli syndrome type 2
Health Risk
RS774986160
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Griscelli syndrome type 2, Autoinflammatory syndrome
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS766632505 | Health Risk | Pathogenic | Griscelli syndrome type 2, Griscelli syndrome type 2 |
| RS767481076 | Health Risk | Pathogenic | Griscelli syndrome type 2, RAB27A-related disorder, Griscelli syndrome type 2 |
| RS770601673 | Health Risk | Pathogenic | Griscelli syndrome, Griscelli syndrome type 2, Griscelli syndrome |
| RS774131854 | Health Risk | Pathogenic | Griscelli syndrome type 2, Griscelli syndrome type 2 |
| RS753966933 | Health Risk | Pathogenic/Likely pathogenic | Griscelli syndrome type 2, Autoinflammatory syndrome, RAB27A-related disorder |
| RS755338751 | Health Risk | Pathogenic/Likely pathogenic | Griscelli syndrome type 2, Autoinflammatory syndrome, Griscelli syndrome type 2 |