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MITF (p.E318K) and renal cell carcinoma: current evidence does not support an effect

jmedgenet · 2026-03-20 · canonical JSON source

1 visible annotations · policy: published · automated confidence ≥ 75.00%

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The microphthalmia-associated transcription factor (MITF) is a key regulator of melanocyte development, function and survival. The p.E318K variant affects SUMOylation at K316 and has been shown to alter MITF’s genome occupancy, potentially influencing pathways involved in susceptibility to melanoma.1