rs111990025

This variant is located in the CLASP2 gene.

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ClinVar annotation

Benign
2 submitters

CLASP2-related disorder; Nonpapillary renal cell carcinoma; Lung cancer; Cervical cancer; Melanoma; Hepatocellular carcinoma; Uveal melanoma; Sarcoma; Gastric cancer; Thyroid cancer, nonmedullary, 1; Acute myeloid leukemia; Malignant tumor of esophagus

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About CLASP2

Enables cytoskeletal protein binding activity; dystroglycan binding activity; and protein tyrosine kinase binding activity. Involved in several processes, including cytoskeleton organization; positive regulation of extracellular matrix organization; and regulation of supramolecular fiber organization. Located in several cellular components, including basal cortex; focal adhesion; and microtubule cytoskeleton. Is active in glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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