NPRL3 Chromosome 16
NPR3 like, GATOR1 complex subunit
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What This Gene Does
Predicted to enable GTPase activator activity. Involved in cellular response to amino acid starvation and negative regulation of TORC1 signaling. Part of GATOR1 complex. Is active in lysosomal membrane. Implicated in familial focal epilepsy with variable foci 3. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
GATOR1 subcomplex
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000103148
Associated Conditions (8)
Epilepsy
familial focal
with variable foci 3
Inborn genetic diseases
Seizure
Cervical cancer
Intellectual disability
with variable foci 1
Key Variants
RS1277893899
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 3
Health Risk
RS186859701
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 3
Health Risk
RS1898841618
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 3
Health Risk
RS1899872500
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 3
Health Risk
RS200792895
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 3
Health Risk
RS201069648
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 3
Health Risk
RS201341279
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 3
Health Risk
RS202129021
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 3
Health Risk
RS2141902503
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 3
Health Risk
RS2141925510
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 3
Health Risk
RS367664536
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 3
Health Risk
RS368936546
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 3
Health Risk
All Variants (130)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2542810934 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS2542811244 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS2542813636 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS2542826482 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS2542826556 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS2542826580 | Health Risk | Pathogenic | — |
| RS2542832016 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS2542832520 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS2542851946 | Health Risk | Pathogenic | — |
| RS2542851981 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS2542856022 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS2542856290 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS2542865493 | Health Risk | Pathogenic | — |
| RS2542869767 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS886037958 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS886037959 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS886037960 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS886037962 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS907712162 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS1199226176 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS1567139896 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS1596526915 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS1596528731 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS1898686157 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS2141981312 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS2542804643 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS2542813615 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS2542826606 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS746975723 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial focal, with variable foci 3 |
| RS886037961 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial focal, with variable foci 3 |