| Entrez Gene ID | 5157 |
|---|---|
| Official Gene Symbol | PDGFRL (GeneCards) |
| Full name | platelet derived growth factor receptor like |
| Location | 8p22 |
| Other ids | Vega : OTTHUMG00000130818 MIM : 604584 HGNC : HGNC:8805 Ensembl : ENSG00000104213 |
| Other names | PDGRL, PRLTS |
| Summary | This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 11872 | 5157 | PDGFRL | 8 | 17451656 | 17451656 | Asymptomatic | HiSeq X Ten |
| 12107 | 5157 | PDGFRL | 8 | 17446507 | 17446507 | HiSeq X Ten | |
| 12597 | 5157 | PDGFRL | 8 | 17448238 | 17448238 | Cockayne syndrome | HiSeq X Ten |
| 26569 | 5157 | PDGFRL | 8 | 17459402 | 17459402 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 26621 | 5157 | PDGFRL | 8 | 17459402 | 17459402 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |