Details
| Name | rs149418249 |
| Type | somatic mutation |
| Species | Homo sapiens |
| Tissue | colon |
| Experiment Method | PCR |
| Up/Down | Up |
| Pro/Anti | Pro |
| Funtion Description | Telomere dysfunction triggers cellular senescence and constitutes a driving force for cancer initiation. Further functional annotation indicated that the TPP1 P507L substitution interrupted TPP1-TIN2 interaction, impaired telomerase processivity, and shor |
| Regulation Gene | TPP1 |
| Year | 2018 |
| Pubmed ID | 29891727 |
| Title | A Rare Variant P507L in TPP1 Interrupts TPP1-TIN2 Interaction, Influences Telomere Length, and Confers Colorectal Cancer Risk in Chinese Population. |
| Drug | NA |
| Disease | colorectal cancer |
| Environment Factors | NA |
| Circulating | NA |
| Variant | somatic mutation |
| High-throughput | NA |