PDGFRL Chromosome 8

Platelet derived growth factor receptor like
3 variants 3 Health Risk

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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
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