ARHGAP29 Chromosome 1
Rho GTPase activating protein 29
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What This Gene Does
Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
AH/BAR family Rho GTPase activating proteins
Locus Type
gene with protein product
Location
1p22.1
Ensembl
ENSG00000137962
Associated Conditions (3)
ARHGAP29-related disorder
Cleft palate
Nonsyndromic cleft lip with or without cleft palate
Key Variants
RS779178615
Conflicting classifications of pathogenicity
ARHGAP29-related disorder, Cleft palate, ARHGAP29-related disorder
Health Risk
RS2524205825
Likely pathogenic
ARHGAP29-related disorder, ARHGAP29-related disorder
Health Risk
RS1114167280
Pathogenic
Nonsyndromic cleft lip with or without cleft palate, Nonsyndromic cleft lip with or without cleft palate
Health Risk
RS1114167281
Pathogenic
Nonsyndromic cleft lip with or without cleft palate, Nonsyndromic cleft lip with or without cleft palate
Health Risk
RS1114167282
Pathogenic
Nonsyndromic cleft lip with or without cleft palate, Nonsyndromic cleft lip with or without cleft palate
Health Risk
RS1570497770
Pathogenic
Nonsyndromic cleft lip with or without cleft palate, Nonsyndromic cleft lip with or without cleft palate
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS779178615 | Health Risk | Conflicting classifications of pathogenicity | ARHGAP29-related disorder, Cleft palate, ARHGAP29-related disorder |
| RS2524205825 | Health Risk | Likely pathogenic | ARHGAP29-related disorder, ARHGAP29-related disorder |
| RS1114167280 | Health Risk | Pathogenic | Nonsyndromic cleft lip with or without cleft palate, Nonsyndromic cleft lip with or without cleft palate |
| RS1114167281 | Health Risk | Pathogenic | Nonsyndromic cleft lip with or without cleft palate, Nonsyndromic cleft lip with or without cleft palate |
| RS1114167282 | Health Risk | Pathogenic | Nonsyndromic cleft lip with or without cleft palate, Nonsyndromic cleft lip with or without cleft palate |
| RS1570497770 | Health Risk | Pathogenic | Nonsyndromic cleft lip with or without cleft palate, Nonsyndromic cleft lip with or without cleft palate |