rs141532197

This variant is located in the SMURF1 gene.

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ClinVar annotation

Likely Benign★☆☆☆
2 submitters

not provided; Acute myeloid leukemia; Clear cell carcinoma of kidney; Malignant tumor of urinary bladder; Hepatocellular carcinoma; Uveal melanoma; Nonpapillary renal cell carcinoma; Colon adenocarcinoma; Thyroid cancer, nonmedullary, 1; Cervical cancer; Ovarian serous cystadenocarcinoma; Melanoma; Lung cancer; Familial cancer of breast

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About SMURF1

This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010]

View all SMURF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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