rs117248024

This variant is located in the TASP1 gene.

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ClinVar annotation

Benign
2 submitters

TASP1-related disorder; Sarcoma; Ovarian serous cystadenocarcinoma; Malignant tumor of urinary bladder; Malignant tumor of esophagus; Clear cell carcinoma of kidney; Cervical cancer; Familial cancer of breast; Thymoma; Thyroid cancer, nonmedullary, 1; Melanoma; Acute myeloid leukemia; Colorectal cancer; Gastric cancer; Hepatocellular carcinoma; Lung cancer

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About TASP1

This gene encodes an endopeptidase that cleaves specific substrates following aspartate residues. The encoded protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which reassemble into the active alpha2-beta2 heterotetramer. It is required to cleave MLL, a protein required for the maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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