RRAGC
Ras related GTP binding C
Summary
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]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs758550293 | 1:39,305,230 | T/C | — | uncertain significance |
| rs749660538 | 1:39,305,252 | G/T | — | uncertain significance |
| rs151267022 | 1:39,311,710 | T/C | — | uncertain significance |
| rs1164971559 | 1:39,311,759 | C/T | — | likely benign |
| rs2544850709 | 1:39,317,419 | A/C | — | uncertain significance |
| rs2544850714 | 1:39,317,422 | C/A | — | uncertain significance |
| rs1035286251 | 1:39,321,558 | T/C | — | uncertain significance |
| rs745953523 | 1:39,322,639 | G/A | — | pathogenic |
| rs2544855616 | 1:39,322,649 | A/G | — | likely pathogenic |
| rs2544855621 | 1:39,322,650 | T/C | — | uncertain significance |
| rs776038485 | 1:39,322,669 | G/A | — | uncertain significance |
| rs2544855797 | 1:39,322,723 | G/T | — | pathogenic |
| rs1925678 | 1:39,325,063 | T/C | — | benign |
| rs2544858216 | 1:39,325,095 | G/T | — | pathogenic |
| rs762473983 | 1:39,325,155 | C/G | — | uncertain significance |
| rs773680771 | 1:39,325,159 | G/A | — | uncertain significance |
| rs992919617 | 1:39,325,188 | A/G | — | uncertain significance |
| rs1276959505 | 1:39,325,191 | C/A | — | uncertain significance |
| rs1190565060 | 1:39,325,223 | C/G | — | uncertain significance |
| rs2544858604 | 1:39,325,261 | C/G | — | uncertain significance |
| rs868545440 | 1:39,325,267 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.