Varaico: Literature-Extracted Genetic Variants

Gene:FAM83G
Variant:p.R52P
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FAM83G

NM_001039999.3:p.R52P

Associated Papers

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis.

Rietmann SJ et al.

Animal Genetics, 2026

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

PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.

Kang M et al.

Journal of Veterinary Science, 2025

40765230 (PubMed )
Supplement: jvs-26-e48-s001.xls › Supplementary_Table_1

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

A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction.

Glennie L et al.

Open Biology, 2024

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture.

Meadows JRS et al.

Genome Biology, 2023

37582787 (PubMed )
Supplement: 13059_2023_3023_MOESM1_ESM.xlsx › Table_S16

Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.

Marín-García PJ et al.

Veterinary Sciences, 2022

Genetics of inherited skin disorders in dogs.

Leeb T et al.

Veterinary Journal (london, England : 1997), 2022

FAM83G/Fam83g genetic variants affect canine and murine hair formation.

Balmer P et al.

Experimental Dermatology, 2019

Pathogenic FAM83G palmoplantar keratoderma mutations inhibit the PAWS1:CK1α association and attenuate Wnt signalling.

Wu KZL et al.

Wellcome Open Research, 2019

The FAM83 family of proteins: from pseudo-PLDs to anchors for CK1 isoforms.

Bozatzi P et al.

Biochemical Society Transactions, 2018

Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair.

Maruthappu T et al.

The Journal of Investigative Dermatology, 2018

PAWS1 controls Wnt signalling through association with casein kinase 1α.

Bozatzi P et al.

Embo Reports, 2018

Genetic testing in veterinary dermatology.

Leeb T et al.

Veterinary Dermatology, 2017

Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis.

Sayyab S et al.

G3 (bethesda, Md.), 2016

A mutation in the FAM83G gene in dogs with hereditary footpad hyperkeratosis (HFH).

Drögemüller M et al.

Plos Genetics, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."