rs2230944

This variant is located in the NCOR2 gene.

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ClinVar annotation

Benign

1 submitter

NCOR2-related disorder

About NCOR2

This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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