rs2539538300

This variant is located in the BRSK2 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

Inborn genetic diseases

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About BRSK2

Enables several functions, including ATP binding activity; ATPase binding activity; and magnesium ion binding activity. Involved in several processes, including G2/M transition of mitotic cell cycle; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and regulation of insulin secretion involved in cellular response to glucose stimulus. Located in centrosome and endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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