RYK
receptor like tyrosine kinase
Summary
The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. The encoded protein has a leucine-rich extracellular domain with a WIF-type Wnt binding region, a single transmembrane domain, and an intracellular tyrosine kinase domain. This protein is involved in stimulating Wnt signaling pathways such as the regulation of axon pathfinding. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7431604 | 3:133,890,995 | A/C | — | — |
| rs9858000 | 3:133,894,390 | G/C | — | — |
| rs757955889 | 3:133,894,465 | G/C | — | uncertain significance |
| rs116254638 | 3:133,894,798 | T/C | — | benign |
| rs7633386 | 3:133,902,559 | T/C | intron variant | — |
| rs9822749 | 3:133,903,799 | T/A | — | — |
| rs55965934 | 3:133,910,687 | C/A | — | benign |
| rs1425051712 | 3:133,910,735 | T/G | — | conflicting classifications of pathogenicity |
| rs61732795 | 3:133,910,769 | A/G | — | likely benign |
| rs2472740347 | 3:133,910,773 | G/C | — | uncertain significance |
| rs2472740385 | 3:133,910,801 | T/C | — | uncertain significance |
| rs1156369867 | 3:133,910,826 | G/A | — | likely benign |
| rs753323111 | 3:133,913,998 | G/A | — | uncertain significance |
| rs2472769572 | 3:133,928,553 | T/C | — | likely benign |
| rs1000514707 | 3:133,928,576 | G/A | — | likely benign |
| rs2472778738 | 3:133,935,154 | G/C | — | uncertain significance |
| rs9822469 | 3:133,940,530 | A/G | intron variant | — |
| rs116266774 | 3:133,941,387 | G/C | — | benign |
| rs2015586190 | 3:133,969,344 | G/C | — | uncertain significance |
| rs201505334 | 3:133,969,348 | G/A | — | benign |
| rs2015586744 | 3:133,969,350 | G/A | — | likely benign |
| rs139860270 | 3:133,969,352 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.