Varaico: Literature-Extracted Genetic Variants

Gene:FAM83G
Variant:p.F58I
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FAM83G

NM_001039999.3:p.F58I

Associated Papers

Mutations within the predicted fragment-binding region of FAM83G/SACK1G abolish its interaction with the Ser/Thr kinase CK1α.

Utgés JS et al.

Open Biology, 2026

The contribution of native protein complexes to targeted protein degradation.

Glennie L et al.

Biorxiv : the Preprint Server for Biology, 2025

Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants.

van Gisbergen MW et al.

The British Journal of Dermatology, 2025

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G.

Mora-Gómez M et al.

Frontiers in Medicine, 2025

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