DLC1 Chromosome 8

DLC1 Rho GTPase activating protein
19 variants 19 Health Risk

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What This Gene Does
This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. This gene functions as a tumor suppressor gene in a number of common cancers, including prostate, lung, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene.[provided by RefSeq, Apr 2010]
Gene Info
Gene Group
"Rho GTPase activating proteins|StAR related lipid transfer domain containing"
Locus Type
gene with protein product
Location
8p22
Ensembl
ENSG00000164741
Associated Conditions (7)
Colorectal cancer
Thyroid cancer
nonmedullary
1
DLC1-related disorder
Carcinoma of colon
Neural tube defect
Key Variants
All Variants (19)
RSID Category Clinical Significance Conditions
RS139243841 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Thyroid cancer, nonmedullary
RS146692656 Health Risk Conflicting classifications of pathogenicity DLC1-related disorder, Colorectal cancer, DLC1-related disorder
RS149472569 Health Risk Conflicting classifications of pathogenicity DLC1-related disorder, DLC1-related disorder
RS149628772 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Colorectal cancer
RS199783855 Health Risk Conflicting classifications of pathogenicity DLC1-related disorder, Colorectal cancer, DLC1-related disorder
RS200118247 Health Risk Conflicting classifications of pathogenicity
RS200993763 Health Risk Conflicting classifications of pathogenicity
RS371098007 Health Risk Conflicting classifications of pathogenicity
RS371215744 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Colorectal cancer
RS373060484 Health Risk Conflicting classifications of pathogenicity
RS374190119 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Colorectal cancer
RS556167966 Health Risk Conflicting classifications of pathogenicity
RS575649250 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Colorectal cancer
RS752787691 Health Risk Conflicting classifications of pathogenicity
RS761388824 Health Risk Conflicting classifications of pathogenicity
RS779069462 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Colorectal cancer
RS121908500 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS1303000329 Health Risk risk factor Neural tube defect, Neural tube defect
RS1563593163 Health Risk risk factor Neural tube defect, Neural tube defect
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