rs2073544332

This variant is located in the RHBDF2 gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Palmoplantar keratoderma-esophageal carcinoma syndrome

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]

View all RHBDF2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…