Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.L474I
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POLD1

NM_002691.4:p.L474I

Associated Papers

The germline POLD1 c.1420 C > A (p.Leu474Ile) variant segregates with endometrial cancer, colorectal cancer and colonic polyps demonstrating hypermutation and defective POLD1 mutational signatures.

Buchanan DD et al.

Familial Cancer, 2025

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