Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.D298N
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MC4R

NM_005912.3:p.D298N

Associated Papers

Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.

Faccioli N et al.

Obesity (silver Spring, Md.), 2026

A conserved functional missense SNP (E100K) in sheep MC4R gene leading to functional loss and impacting the growth traits.

Yang Y et al.

Journal of Animal Science, 2026

Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.

Zorn S et al.

Nature Medicine, 2025

41102563 (PubMed )
Supplement: 41591_2025_3976_MOESM2_ESM.xlsx › Table_S4

Multi-omics integration reveals Chr1 associated QTL mediating backfat thickness in pigs.

Yu N et al.

Journal of Animal Science and Biotechnology, 2025

Genomic insights into the demographic history and local adaptation of wild boars across Eurasia.

Wang Z et al.

Cell Genomics, 2025

40712570 (PubMed )
Supplement: mmc4.xlsx › Table_S7

Genetic Variability of Loci Affecting Meat Quality and Production in Nero Siciliano Pig Breed.

Tumino S et al.

Animals : an Open Access Journal From Mdpi, 2025

Bioinformatic approach to identifying causative missense polymorphisms in animal genomes.

Peka M et al.

Bmc Genomics, 2024

The 1000 Chinese Indigenous Pig Genomes Project provides insights into the genomic architecture of pigs.

Du H et al.

Nature Communications, 2024

39578420 (PubMed )
Supplement: 41467_2024_54471_MOESM4_ESM.xlsx › Supplementary_Data_2

A Critical Functional Missense Mutation (T117M) in Sheep MC4R Gene Significantly Leads to Gain-of-Function.

Zhao Z et al.

Animals : an Open Access Journal From Mdpi, 2024

A DIO2 missense mutation and its impact on fetal response to PRRSV infection.

Ko H et al.

Bmc Veterinary Research, 2024

38867209 (PubMed )
Supplement: 12917_2024_4099_MOESM1_ESM.pdf

The variation of insulin like growth factor 2 maker is associated with growth traits in Thai native (Kradon) pigs.

Ampaporn K et al.

Animal Bioscience, 2023

The c.612A>G mutation of MC4R affects constitutive activity and signaling in domestic goats.

Yan Y et al.

Animal Genetics, 2022

Evidence for and localization of proposed causative variants in cattle and pig genomes.

Johnsson M et al.

Genetics, Selection, Evolution : Gse, 2021

Pharmacological characterization of three chicken melanocortin-3 receptor mutants.

Zhang HJ et al.

Domestic Animal Endocrinology, 2021

Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.

Namjou B et al.

International Journal of Obesity (2005), 2021

Review: Balancing Selection for Deleterious Alleles in Livestock.

Derks MFL et al.

Frontiers in Genetics, 2021

The Asp298Asn polymorphism of melanocortin-4 receptor (MC4R) in pigs: evidence for its potential effects on MC4R constitutive activity and cell surface expression.

Zhang J et al.

Animal Genetics, 2020

MC4R deficiency in pigs results in hyperphagia and ultimately hepatic steatosis without high-fat diet.

Hao H et al.

Biochemical and Biophysical Research Communications, 2019

Signal Transduction and Pathogenic Modifications at the Melanocortin-4 Receptor: A Structural Perspective.

Heyder N et al.

Frontiers in Endocrinology, 2019

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.

Collet TH et al.

Molecular Metabolism, 2017

29031731 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Pharmacologic analyses of four chicken melanocortin-4 receptor mutations.

Wang ZQ et al.

Domestic Animal Endocrinology, 2016

SNPs detected in the yak MC4R gene and their association with growth traits.

Cai X et al.

Animal : an International Journal of Animal Bioscience, 2015

Melanocortin-4 receptor (MC4R) polymorphisms are associated with growth and meat quality traits in sheep.

Zuo B et al.

Molecular Biology Reports, 2014

A genomewide association study for average daily gain in Italian Large White pigs.

Fontanesi L et al.

Journal of Animal Science, 2014

Activation of MAPK by inverse agonists in six naturally occurring constitutively active mutant human melanocortin-4 receptors.

Mo XL et al.

Biochimica Et Biophysica Acta, 2013

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

Switonski M et al.

Journal of Applied Genetics, 2013

DNA polymorphisms of the Hu sheep melanocortin-4 receptor gene associated with birth weight and 45-day weaning weight.

Song XM et al.

Genetics and Molecular Research : Gmr, 2012

Functions of transmembrane domain 3 of human melanocortin-4 receptor.

Mo XL et al.

Journal of Molecular Endocrinology, 2012

Identification and association analysis of several hundred single nucleotide polymorphisms within candidate genes for back fat thickness in Italian Large White pigs using a selective genotyping approach.

Fontanesi L et al.

Journal of Animal Science, 2012

A comparative analysis of MC4R gene sequence, polymorphism, and chromosomal localization in Chinese raccoon dog and Arctic fox.

Skorczyk A et al.

Dna and Cell Biology, 2012

Distribution and linkage disequilibrium analysis of polymorphisms of MC4R, LEP, H-FABP genes in the different populations of pigs, associated with economic traits in DIV2 line.

Chao Z et al.

Molecular Biology Reports, 2012

Identification and analysis of MC4R polymorphisms and their association with economic traits of Korean cattle (Hanwoo).

Seong J et al.

Molecular Biology Reports, 2012

Analyses of porcine public SNPs in coding-gene regions by re-sequencing and phenotypic association studies.

Li X et al.

Molecular Biology Reports, 2011

Pharmacological characterization of canine melancortin-4 receptor and its natural variant V213F.

Yan J et al.

Domestic Animal Endocrinology, 2011

The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.

Tao YX

Endocrine Reviews, 2010

Association of the melanocortin-4 receptor (MC4R) with feed intake, growth, fatness and carcass composition in pigs raised in Poland.

Piórkowska K et al.

Meat Science, 2010

Mutations of MC4R gene and its association with economic traits in Qinchuan cattle.

Liu H et al.

Molecular Biology Reports, 2010

Genetics of fat tissue accumulation in pigs: a comparative approach.

Switonski M et al.

Journal of Applied Genetics, 2010

Association between variants in the 5'-untranslated region of the bovine MC4R gene and two growth traits in Nanyang cattle.

Zhang CL et al.

Molecular Biology Reports, 2009

Detailed characterization of the porcine MC4R gene in relation to fatness and growth.

Fan B et al.

Animal Genetics, 2009

Microarray gene expression profiles of fasting induced changes in liver and adipose tissues of pigs expressing the melanocortin-4 receptor D298N variant.

Lkhagvadorj S et al.

Physiological Genomics, 2009

Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

Tan K et al.

Endocrinology, 2009

Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.

Tao YX

Pharmacology & Therapeutics, 2008

Pharmacological analyses of two naturally occurring porcine melanocortin-4 receptor mutations in domestic pigs.

Fan ZC et al.

Domestic Animal Endocrinology, 2008

Structural analysis and haplotype diversity in swine LEP and MC4R genes.

D'Andrea M et al.

Journal of Animal Breeding and Genetics = Zeitschrift Fur Tierzuchtung Und Zuchtungsbiologie, 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."