rs145189179
This is a variant in the DCAF6 gene that changes a arginine to an glutamine.
▶ClinVar annotation
Cerebral visual impairment and intellectual disability; DCAF6-related condition
View on ClinVar →About DCAF6
The protein encoded by this gene is a ligand-dependent coactivator of nuclear receptors, including nuclear receptor subfamily 3 group C member 1 (NR3C1), glucocorticoid receptor (GR), and androgen receptor (AR). The encoded protein and DNA damage binding protein 2 (DDB2) may act as tumor promoters and tumor suppressors, respectively, by regulating the level of androgen receptor in prostate tissues. In addition, this protein can act with glucocorticoid receptor to promote human papillomavirus gene expression. [provided by RefSeq, Mar 2017]
View all DCAF6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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