RECK
reversion inducing cysteine rich protein with kazal motifs
Summary
The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10814325 | 9:36,036,594 | T/G | — | — |
| rs894635394 | 9:36,037,054 | G/T | — | uncertain significance |
| rs1014461372 | 9:36,037,056 | G/T | — | uncertain significance |
| rs1056870646 | 9:36,037,075 | G/T | — | uncertain significance |
| rs755726385 | 9:36,037,090 | G/A | — | uncertain significance |
| rs537518010 | 9:36,046,550 | G/A | — | — |
| rs769867079 | 9:36,052,304 | G/A | — | uncertain significance |
| rs1167585795 | 9:36,052,309 | G/A | — | uncertain significance |
| rs71521299 | 9:36,058,816 | G/T | — | benign |
| rs568913271 | 9:36,058,865 | G/T | — | uncertain significance |
| rs1821697466 | 9:36,060,120 | A/C | — | uncertain significance |
| rs1469129080 | 9:36,060,126 | G/C | — | uncertain significance |
| rs371801859 | 9:36,063,818 | G/C | — | uncertain significance |
| rs1282242990 | 9:36,080,608 | C/G | — | uncertain significance |
| rs755997025 | 9:36,087,711 | G/A | — | uncertain significance |
| rs770475755 | 9:36,087,795 | G/A | — | uncertain significance |
| rs16932912 | 9:36,087,876 | G/A | missense variant | — |
| rs771617772 | 9:36,087,922 | T/G | — | uncertain significance |
| rs2489270293 | 9:36,091,177 | C/T | — | uncertain significance |
| rs1489946281 | 9:36,091,225 | C/T | — | uncertain significance |
| rs2489270481 | 9:36,091,288 | C/A | — | uncertain significance |
| rs4878639 | 9:36,099,399 | T/C | intron variant | — |
| rs144037912 | 9:36,100,388 | G/C | — | uncertain significance |
| rs1250765462 | 9:36,100,450 | A/T | — | uncertain significance |
| rs769345944 | 9:36,100,462 | C/A | — | uncertain significance |
| rs1823521231 | 9:36,100,476 | G/A | — | uncertain significance |
| rs140438492 | 9:36,102,088 | A/C | — | benign |
| rs556592531 | 9:36,102,096 | A/G | — | likely benign |
| rs751030271 | 9:36,102,153 | C/G | — | uncertain significance |
| rs769867577 | 9:36,105,167 | A/G | — | uncertain significance |
| rs11788747 | 9:36,105,264 | A/G | synonymous variant | — |
| rs202116020 | 9:36,108,009 | G/A | — | uncertain significance |
| rs1035683411 | 9:36,108,017 | A/G | — | uncertain significance |
| rs141592531 | 9:36,108,054 | G/A | — | uncertain significance |
| rs41277085 | 9:36,108,061 | T/C | — | likely benign |
| rs750508413 | 9:36,108,113 | C/T | — | uncertain significance |
| rs758497981 | 9:36,108,124 | C/G | — | uncertain significance |
| rs199710956 | 9:36,108,140 | A/G | — | uncertain significance |
| rs112938194 | 9:36,108,160 | A/T | — | uncertain significance |
| rs2489285675 | 9:36,110,044 | A/T | — | uncertain significance |
| rs10972727 | 9:36,110,063 | T/G | synonymous variant | — |
| rs780642821 | 9:36,112,382 | C/T | — | uncertain significance |
| rs776820138 | 9:36,112,383 | G/A | — | uncertain significance |
| rs1229304067 | 9:36,112,410 | T/G | — | uncertain significance |
| rs2489287848 | 9:36,112,452 | A/T | — | uncertain significance |
| rs145965365 | 9:36,112,468 | C/G | — | uncertain significance |
| rs753579915 | 9:36,117,011 | C/T | — | uncertain significance |
| rs768112622 | 9:36,117,083 | A/T | — | uncertain significance |
| rs753434880 | 9:36,117,085 | C/T | — | uncertain significance |
| rs779187960 | 9:36,118,772 | G/A | — | uncertain significance |
| rs141528795 | 9:36,118,778 | G/A | — | likely benign |
| rs527977068 | 9:36,118,833 | G/A | — | uncertain significance |
| rs371483607 | 9:36,118,835 | G/A | — | uncertain significance |
| rs138317907 | 9:36,118,844 | G/A | — | uncertain significance |
| rs1409883329 | 9:36,118,886 | C/T | — | likely benign |
| rs771880391 | 9:36,118,895 | G/A | — | uncertain significance |
| rs775316390 | 9:36,118,898 | G/A | — | likely benign |
| rs1824429649 | 9:36,120,726 | T/C | — | uncertain significance |
| rs1824459427 | 9:36,121,530 | G/A | — | uncertain significance |
| rs1485430103 | 9:36,121,554 | G/T | — | uncertain significance |
| rs139573143 | 9:36,121,581 | A/T | — | uncertain significance |
| rs747098985 | 9:36,121,629 | G/A | — | uncertain significance |
| rs750203978 | 9:36,122,911 | C/G | — | uncertain significance |
| rs754984693 | 9:36,122,943 | T/A | — | uncertain significance |
| rs56680169 | 9:36,122,955 | C/T | — | benign |
| rs761415230 | 9:36,122,981 | A/C | — | uncertain significance |
| rs749678517 | 9:36,123,032 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.