CRKL
CRK like proto-oncogene, adaptor protein
Summary
This gene encodes a protein kinase containing SH2 and SH3 (src homology) domains which has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase, plays a role in fibroblast transformation by BCR-ABL, and may be oncogenic.[provided by RefSeq, Jan 2009]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs747983440 | 22:21,272,249 | G/A | — | likely benign |
| rs150673692 | 22:21,272,258 | C/T | — | benign |
| rs1929754451 | 22:21,272,312 | C/T | — | likely benign |
| rs746762587 | 22:21,272,325 | A/G | — | uncertain significance |
| rs1929756463 | 22:21,272,348 | C/T | — | likely benign |
| rs148703254 | 22:21,272,471 | C/T | — | likely benign |
| rs2147892080 | 22:21,272,511 | A/G | — | uncertain significance |
| rs2147892133 | 22:21,272,535 | T/C | — | uncertain significance |
| rs1929762783 | 22:21,272,539 | C/T | — | uncertain significance |
| rs147739461 | 22:21,277,253 | G/A | intron variant | — |
| rs141721456 | 22:21,278,113 | G/C | intron variant | — |
| rs139459946 | 22:21,279,432 | C/T | intron variant | — |
| rs117292351 | 22:21,279,857 | A/G | intron variant | — |
| rs2147904521 | 22:21,288,092 | G/A | — | uncertain significance |
| rs373785511 | 22:21,288,261 | G/A | — | uncertain significance |
| rs535421669 | 22:21,288,287 | G/A | — | uncertain significance |
| rs752182830 | 22:21,288,289 | C/T | — | likely benign |
| rs776452921 | 22:21,288,376 | C/T | — | likely benign |
| rs763765173 | 22:21,288,415 | C/T | — | likely benign |
| rs145813322 | 22:21,288,416 | G/A | — | benign |
| rs756451346 | 22:21,288,432 | C/T | — | uncertain significance |
| rs936484318 | 22:21,288,454 | A/T | — | likely benign |
| rs2023716 | 22:21,300,895 | A/C | intron variant | — |
| rs544692305 | 22:21,303,979 | T/C | — | benign |
| rs1184315163 | 22:21,304,009 | T/C | — | uncertain significance |
| rs779069642 | 22:21,304,010 | C/T | — | likely benign |
| rs769606385 | 22:21,304,061 | C/T | — | conflicting classifications of pathogenicity |
| rs2147918364 | 22:21,304,062 | G/A | — | uncertain significance |
| rs117003805 | 22:21,305,846 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.