rs141461044

This variant is located in the RHBDF2 gene.

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

Palmoplantar keratoderma-esophageal carcinoma syndrome; not provided; Cervical cancer; Uterine corpus endometrial carcinoma; Gastric cancer; Uterine carcinosarcoma; Acute myeloid leukemia; Familial cancer of breast

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About RHBDF2

Predicted to enable protein transporter activity. Predicted to be involved in negative regulation of protein secretion and regulation of epidermal growth factor receptor signaling pathway. Predicted to act upstream of or within protein localization to plasma membrane and regulation of metalloendopeptidase activity. Located in plasma membrane. Implicated in palmoplantar keratoderma-esophageal carcinoma syndrome. [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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