Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.R306C
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MC1R

NM_002386.4:p.R306C

Associated Papers

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

Canine coat color E locus updates: Identification of a new MC1R variant causing 'sable' coat color in English Cocker Spaniels and a proposed update to the E locus dominance hierarchy.

Honkanen L et al.

Animal Genetics, 2024

White and other fur colourations and hybridization in golden jackals (Canis aureus) in the Carpathian basin.

Ninausz N et al.

Scientific Reports, 2023

Effect of polymorphisms in the 5'-flanking sequence of MC1R on feather color in Taihang chickens.

Fan Y et al.

Poultry Science, 2022

Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Moore BS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34326492 (PubMed )
Supplement: NIHMS1754145-supplement-Supplemental_Table_2.xlsx › Sheet1

Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs.

Laukner A et al.

Genes, 2021

34356108 (PubMed )
Supplement: genes-12-01092-s001.zip › genes-1300465-supplementary.xlsx › S1_variants_for_coat_color_

Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs.

Hédan B et al.

Genes, 2019

Comparative FISH-Mapping of MC1R, ASIP, and TYRP1 in New and Old World Camelids and Association Analysis With Coat Color Phenotypes in the Dromedary (Camelus dromedarius).

Alshanbari F et al.

Frontiers in Genetics, 2019

Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies.

Dürig N et al.

Animal Genetics, 2018

Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh.

Langevin M et al.

Plos One, 2018

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Tell-Marti G et al.

Molecular Neurobiology, 2017

Family of melanocortin receptor (MCR) genes in mammals-mutations, polymorphisms and phenotypic effects.

Switonski M et al.

Journal of Applied Genetics, 2013

Incidence of the mask phenotype M264V mutation in Labrador Retrievers.

Conant EK et al.

Research in Veterinary Science, 2011

Mutations in the melanocortin 1 receptor, β-defensin103 and agouti signaling protein genes, and their association with coat color phenotypes in Akita-inu dogs.

Oguro-Okano M et al.

The Journal of Veterinary Medical Science, 2011

Variation of the melanocortin 1 receptor gene in the macaques.

Nakayama K et al.

American Journal of Primatology, 2008

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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."