DDR1
discoidin domain receptor tyrosine kinase 1
Summary
Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
Known Variants57 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1264330 | 6:30,846,919 | A/C | upstream gene variant | — |
| rs7756521 | 6:30,848,253 | T/A | — | — |
| rs885910 | 6:30,849,124 | A/T | regulatory region variant | — |
| rs1264328 | 6:30,850,142 | A/G | upstream gene variant | — |
| rs1264327 | 6:30,850,582 | G/A | regulatory region variant | — |
| rs7757648 | 6:30,851,933 | G/T | — | — |
| rs111447306 | 6:30,852,785 | G/A | regulatory region variant | — |
| rs4618569 | 6:30,855,251 | G/T | — | — |
| rs1264323 | 6:30,855,907 | G/C | — | — |
| rs55901302 | 6:30,856,555 | A/G | — | likely benign |
| rs770421290 | 6:30,856,781 | A/G | — | uncertain significance |
| rs964623615 | 6:30,856,986 | A/G | — | uncertain significance |
| rs902915281 | 6:30,857,194 | G/A | — | uncertain significance |
| rs141547665 | 6:30,858,846 | C/T | — | uncertain significance |
| rs2537745352 | 6:30,859,160 | G/A | — | uncertain significance |
| rs567397063 | 6:30,859,183 | G/C | — | uncertain significance |
| rs143357711 | 6:30,859,199 | A/G | — | uncertain significance |
| rs1264321 | 6:30,859,344 | G/T | — | — |
| rs1329592902 | 6:30,859,904 | C/T | — | uncertain significance |
| rs780397649 | 6:30,860,106 | C/T | — | uncertain significance |
| rs780299497 | 6:30,860,265 | C/T | — | uncertain significance |
| rs370116223 | 6:30,860,266 | G/A | — | uncertain significance |
| rs748561326 | 6:30,860,278 | C/T | — | uncertain significance |
| rs2537907286 | 6:30,860,307 | T/C | — | uncertain significance |
| rs371183562 | 6:30,860,887 | C/T | — | uncertain significance |
| rs1416694443 | 6:30,860,892 | G/C | — | uncertain significance |
| rs149823598 | 6:30,861,184 | G/A | — | uncertain significance |
| rs759356928 | 6:30,861,188 | G/C | — | uncertain significance |
| rs199740590 | 6:30,862,383 | C/T | — | uncertain significance |
| rs775463181 | 6:30,862,397 | C/T | — | likely benign |
| rs921859872 | 6:30,863,238 | C/T | — | uncertain significance |
| rs201876615 | 6:30,863,247 | C/T | — | uncertain significance |
| rs1399126179 | 6:30,864,415 | A/G | — | uncertain significance |
| rs147476733 | 6:30,864,440 | C/T | — | uncertain significance |
| rs143821899 | 6:30,864,483 | C/T | — | likely benign |
| rs754549769 | 6:30,864,538 | C/T | — | uncertain significance |
| rs1791003006 | 6:30,864,622 | G/A | — | uncertain significance |
| rs1049623 | 6:30,864,829 | T/G | synonymous variant | — |
| rs200569741 | 6:30,864,899 | G/A | — | uncertain significance |
| rs2267641 | 6:30,865,204 | A/C | synonymous variant | — |
| rs144868912 | 6:30,865,215 | G/A | — | uncertain significance |
| rs1307942347 | 6:30,865,277 | G/A | — | uncertain significance |
| rs549382721 | 6:30,865,294 | C/A | — | uncertain significance |
| rs758886410 | 6:30,865,316 | G/A | — | likely benign |
| rs147091812 | 6:30,865,372 | C/T | — | benign |
| rs2239518 | 6:30,865,725 | C/T | regulatory region variant | — |
| rs146993618 | 6:30,865,880 | G/C | — | uncertain significance |
| rs1444166268 | 6:30,865,896 | C/T | — | uncertain significance |
| rs368093405 | 6:30,866,681 | C/G | — | uncertain significance |
| rs181600077 | 6:30,866,695 | G/T | — | uncertain significance |
| rs991312762 | 6:30,866,719 | G/A | — | uncertain significance |
| rs115029731 | 6:30,866,929 | G/A | — | benign |
| rs1030361707 | 6:30,866,999 | C/T | — | uncertain significance |
| rs767934466 | 6:30,867,015 | G/A | — | uncertain significance |
| rs758691978 | 6:30,867,063 | A/G | — | uncertain significance |
| rs373308255 | 6:30,867,066 | C/T | — | likely benign |
| rs1049633 | 6:30,867,527 | G/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.