rs144426436

This variant is located in the EPB41L1 gene.

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ClinVar annotation

Likely Benign★★★☆
5 submitters2 publications

not specified; not provided; EPB41L1-related disorder; Gastric cancer; Malignant tumor of urinary bladder; Clear cell carcinoma of kidney; Ovarian serous cystadenocarcinoma; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Lung cancer

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About EPB41L1

Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

View all EPB41L1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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