ARHGAP24 Chromosome 4
Rho GTPase activating protein 24
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What This Gene Does
This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Rho GTPase activating proteins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
4q21.23-q21.3
Ensembl
ENSG00000138639
Associated Conditions (1)
ARHGAP24-related disorder
Key Variants
RS141564681
Conflicting classifications of pathogenicity
Health Risk
RS142672228
Conflicting classifications of pathogenicity
Health Risk
RS144785317
Conflicting classifications of pathogenicity
Health Risk
RS147274215
Conflicting classifications of pathogenicity
Health Risk
RS147870358
Conflicting classifications of pathogenicity
ARHGAP24-related disorder, ARHGAP24-related disorder
Health Risk
RS149024248
Conflicting classifications of pathogenicity
Health Risk
RS149415202
Conflicting classifications of pathogenicity
Health Risk
RS200213078
Conflicting classifications of pathogenicity
ARHGAP24-related disorder, ARHGAP24-related disorder
Health Risk
RS200818558
Conflicting classifications of pathogenicity
Health Risk
RS201979237
Conflicting classifications of pathogenicity
Health Risk
RS376614296
Conflicting classifications of pathogenicity
ARHGAP24-related disorder, ARHGAP24-related disorder
Health Risk
RS533903357
Conflicting classifications of pathogenicity
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141564681 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142672228 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144785317 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147274215 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147870358 | Health Risk | Conflicting classifications of pathogenicity | ARHGAP24-related disorder, ARHGAP24-related disorder |
| RS149024248 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149415202 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200213078 | Health Risk | Conflicting classifications of pathogenicity | ARHGAP24-related disorder, ARHGAP24-related disorder |
| RS200818558 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201979237 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376614296 | Health Risk | Conflicting classifications of pathogenicity | ARHGAP24-related disorder, ARHGAP24-related disorder |
| RS533903357 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS74779744 | Health Risk | Conflicting classifications of pathogenicity | ARHGAP24-related disorder, ARHGAP24-related disorder |
| RS756950646 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762866205 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765558281 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779960116 | Health Risk | Conflicting classifications of pathogenicity | — |