rs529632222
This variant is located in the SMARCA4 gene.
▶ClinVar annotation
Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-predisposing syndrome; Intellectual disability, autosomal dominant 16; not provided
View on ClinVar →About SMARCA4
The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
View all SMARCA4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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