PBRM1 Chromosome 3

Polybromo 1
1 variant 1 Health Risk

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What This Gene Does
This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
"Bromodomain containing|PBAF complex subunits"
Locus Type
gene with protein product
Location
3p21.1
Ensembl
ENSG00000163939
Associated Conditions (1)
Clear cell carcinoma of kidney
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS864321679 Health Risk Pathogenic Clear cell carcinoma of kidney, Clear cell carcinoma of kidney
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