RSPO1
R-spondin 1
Summary
This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-protein coupled receptors (LGR proteins) and positively regulates the Wnt signaling pathway. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4652964 | 1:38,078,300 | G/A | — | benign |
| rs61748625 | 1:38,078,500 | C/T | — | benign |
| rs2148156809 | 1:38,078,547 | G/T | — | uncertain significance |
| rs780621142 | 1:38,078,560 | C/T | — | uncertain significance |
| rs182482113 | 1:38,078,561 | G/A | — | conflicting classifications of pathogenicity |
| rs375231071 | 1:38,078,580 | C/T | — | likely benign |
| rs55852308 | 1:38,078,630 | A/T | — | benign |
| rs185277562 | 1:38,079,075 | C/T | intron variant | — |
| rs774651356 | 1:38,079,381 | G/A | — | uncertain significance |
| rs372861038 | 1:38,079,386 | C/T | — | likely benign |
| rs200020734 | 1:38,079,393 | C/T | — | uncertain significance |
| rs371551242 | 1:38,079,416 | C/A | — | uncertain significance |
| rs368673186 | 1:38,079,448 | C/A | — | likely benign |
| rs918027632 | 1:38,079,485 | G/A | — | likely benign |
| rs1219023043 | 1:38,079,494 | C/T | — | likely benign |
| rs374906144 | 1:38,079,496 | G/A | — | uncertain significance |
| rs36043533 | 1:38,079,517 | G/T | — | benign |
| rs2148158604 | 1:38,079,520 | T/C | — | uncertain significance |
| rs201102260 | 1:38,079,537 | G/A | — | uncertain significance |
| rs746445064 | 1:38,079,540 | G/A | — | uncertain significance |
| rs772452912 | 1:38,079,547 | C/T | — | uncertain significance |
| rs2522587552 | 1:38,079,556 | C/T | — | uncertain significance |
| rs766373557 | 1:38,079,860 | A/T | — | uncertain significance |
| rs112229653 | 1:38,079,875 | G/C | — | likely benign |
| rs2522591108 | 1:38,079,898 | C/G | — | uncertain significance |
| rs201520180 | 1:38,079,901 | C/T | — | uncertain significance |
| rs2522591602 | 1:38,079,946 | C/T | — | uncertain significance |
| rs775312354 | 1:38,079,998 | C/G | — | uncertain significance |
| rs11588571 | 1:38,080,065 | C/A | — | benign |
| rs12039431 | 1:38,082,122 | G/A | — | benign |
| rs12046650 | 1:38,082,123 | C/T | — | benign |
| rs745360920 | 1:38,082,145 | C/A | — | likely benign |
| rs1570099690 | 1:38,082,155 | C/T | — | pathogenic |
| rs759652543 | 1:38,082,190 | G/A | — | likely benign |
| rs778066733 | 1:38,082,211 | C/T | — | likely benign |
| rs759703981 | 1:38,082,243 | T/C | — | uncertain significance |
| rs746493694 | 1:38,082,313 | G/C | — | likely benign |
| rs2522604959 | 1:38,082,314 | C/T | — | uncertain significance |
| rs201499112 | 1:38,082,327 | C/T | — | uncertain significance |
| rs45577433 | 1:38,082,381 | G/C | — | benign |
| rs4074961 | 1:38,092,723 | C/T | intron variant | — |
| rs34565418 | 1:38,095,036 | A/G | — | benign |
| rs749070990 | 1:38,095,242 | C/T | — | uncertain significance |
| rs202108743 | 1:38,095,274 | G/A | — | likely benign |
| rs373246338 | 1:38,095,289 | C/T | — | likely benign |
| rs570832869 | 1:38,095,330 | G/T | — | likely benign |
| rs12753021 | 1:38,095,804 | T/C | — | benign |
| rs4511080 | 1:38,095,960 | A/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.