CABLES1
Cdk5 and Abl enzyme substrate 1
Summary
This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs113232639 | 18:20,715,656 | G/A | regulatory region variant | — |
| rs1407613521 | 18:20,715,764 | G/A | — | uncertain significance |
| rs1046665983 | 18:20,715,842 | C/G | — | uncertain significance |
| rs2046815673 | 18:20,715,877 | C/A | — | uncertain significance |
| rs1453539997 | 18:20,715,881 | C/G | — | uncertain significance |
| rs1178525911 | 18:20,715,883 | C/T | — | uncertain significance |
| rs2510927978 | 18:20,715,886 | A/C | — | uncertain significance |
| rs1598791278 | 18:20,715,890 | C/G | — | uncertain significance |
| rs868512083 | 18:20,715,893 | G/T | — | uncertain significance |
| rs539279441 | 18:20,715,905 | G/A | — | uncertain significance |
| rs375018617 | 18:20,715,951 | C/T | — | likely benign |
| rs771528127 | 18:20,715,965 | C/T | — | likely benign |
| rs928245349 | 18:20,715,989 | G/A | — | uncertain significance |
| rs1230844350 | 18:20,715,991 | G/A | — | uncertain significance |
| rs2046817218 | 18:20,716,009 | A/G | — | uncertain significance |
| rs201595073 | 18:20,716,021 | G/A | — | uncertain significance |
| rs767348472 | 18:20,716,032 | C/G | — | uncertain significance |
| rs1010505803 | 18:20,716,165 | C/T | — | uncertain significance |
| rs753384032 | 18:20,716,166 | C/T | — | uncertain significance |
| rs2510928461 | 18:20,716,204 | C/T | — | uncertain significance |
| rs920822533 | 18:20,716,224 | C/G | — | uncertain significance |
| rs1371263506 | 18:20,716,238 | G/A | — | uncertain significance |
| rs907952775 | 18:20,716,240 | G/A | — | uncertain significance |
| rs2046820093 | 18:20,716,253 | C/T | — | uncertain significance |
| rs200098768 | 18:20,716,258 | G/A | — | likely benign |
| rs2046820378 | 18:20,716,268 | A/T | — | uncertain significance |
| rs2510928663 | 18:20,716,349 | T/G | — | uncertain significance |
| rs2510928669 | 18:20,716,354 | G/A | — | uncertain significance |
| rs766367851 | 18:20,716,363 | G/T | — | uncertain significance |
| rs2046821725 | 18:20,716,372 | A/G | — | likely benign |
| rs756693048 | 18:20,716,487 | G/T | — | uncertain significance |
| rs9962540 | 18:20,718,818 | T/G | — | — |
| rs11082304 | 18:20,720,973 | G/C | — | — |
| rs4800148 | 18:20,724,328 | G/C | — | — |
| rs4800452 | 18:20,727,611 | C/T | intron variant | — |
| rs7237942 | 18:20,728,049 | A/C | — | — |
| rs4369779 | 18:20,735,408 | T/A | — | — |
| rs10853502 | 18:20,744,658 | T/C | — | — |
| rs8094261 | 18:20,746,728 | G/C | regulatory region variant | — |
| rs529420681 | 18:20,768,803 | C/T | — | uncertain significance |
| rs2510665553 | 18:20,768,836 | A/G | — | uncertain significance |
| rs2510678220 | 18:20,793,953 | C/G | — | uncertain significance |
| rs183575205 | 18:20,794,014 | G/A | — | uncertain significance |
| rs143007280 | 18:20,798,576 | G/T | — | — |
| rs933660957 | 18:20,814,643 | G/A | — | uncertain significance |
| rs373572190 | 18:20,815,908 | G/A | — | uncertain significance |
| rs755229793 | 18:20,815,939 | C/A | — | uncertain significance |
| rs747659049 | 18:20,817,127 | T/C | — | uncertain significance |
| rs763088478 | 18:20,817,186 | G/A | — | uncertain significance |
| rs2510691645 | 18:20,817,192 | A/G | — | uncertain significance |
| rs374881958 | 18:20,832,942 | G/C | — | uncertain significance |
| rs756944411 | 18:20,832,952 | C/T | — | uncertain significance |
| rs1273439424 | 18:20,832,979 | C/A | — | uncertain significance |
| rs749836137 | 18:20,832,997 | C/T | — | uncertain significance |
| rs201279640 | 18:20,833,710 | G/A | — | uncertain significance |
| rs200360924 | 18:20,833,766 | G/A | — | uncertain significance |
| rs758005604 | 18:20,833,784 | G/A | — | uncertain significance |
| rs371602566 | 18:20,837,284 | G/A | — | uncertain significance |
| rs1287451645 | 18:20,837,306 | A/G | — | uncertain significance |
| rs372764381 | 18:20,837,321 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.