rs80215473

This variant is located in the SMURF2 gene.

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ClinVar annotation

Benign★☆☆☆
3 submitters

SMURF2-related disorder; not provided; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Cervical cancer; Sarcoma; Acute myeloid leukemia; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Colon adenocarcinoma; Colorectal cancer; Melanoma; Hepatocellular carcinoma

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About SMURF2

Enables SMAD binding activity; identical protein binding activity; and ubiquitin protein ligase activity. Involved in negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of trophoblast cell migration; and ubiquitin-dependent protein catabolic process. Located in nuclear speck. Part of ubiquitin ligase complex. [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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