PDGFRL Chromosome 8
Platelet derived growth factor receptor like
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What This Gene Does
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]
Gene Info
Gene Group
I-set domain containing
Locus Type
gene with protein product
Location
8p22
Ensembl
ENSG00000104213
Associated Conditions (1)
Carcinoma of colon
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115588653 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34445293 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS137853148 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |