RRAGC Chromosome 1
Ras related GTP binding C
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What This Gene Does
This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Gene Info
Gene Group
Ras related GTP binding proteins
Locus Type
gene with protein product
Location
1p34.3
Ensembl
ENSG00000116954
Associated Conditions (2)
See cases
Long-Olsen-Distelmaier syndrome
Key Variants
RS2544855616
Likely pathogenic
See cases, Long-Olsen-Distelmaier syndrome, See cases
Health Risk
RS2544855797
Pathogenic
Long-Olsen-Distelmaier syndrome, Long-Olsen-Distelmaier syndrome
Health Risk
RS2544858216
Pathogenic
Long-Olsen-Distelmaier syndrome, Long-Olsen-Distelmaier syndrome
Health Risk
RS745953523
Pathogenic
Long-Olsen-Distelmaier syndrome, Long-Olsen-Distelmaier syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2544855616 | Health Risk | Likely pathogenic | See cases, Long-Olsen-Distelmaier syndrome, See cases |
| RS2544855797 | Health Risk | Pathogenic | Long-Olsen-Distelmaier syndrome, Long-Olsen-Distelmaier syndrome |
| RS2544858216 | Health Risk | Pathogenic | Long-Olsen-Distelmaier syndrome, Long-Olsen-Distelmaier syndrome |
| RS745953523 | Health Risk | Pathogenic | Long-Olsen-Distelmaier syndrome, Long-Olsen-Distelmaier syndrome |