Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.M128T
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MC1R

NM_002386.4:p.M128T

Associated Papers

MC1R Gene Variants and Their Relationship with Coat Color in South American Camelids.

Melo Rojas C et al.

Thescientificworldjournal, 2023

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

Dermoscopy comparative approach for early diagnosis in familial melanoma: influence of MC1R genotype.

Longo C et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021

A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk.

Tell-Marti G et al.

Journal of Alzheimer's Disease : Jad, 2017

Effect of the MC1R gene on sexual dimorphism in melanin-based colorations.

San-Jose LM et al.

Molecular Ecology, 2015

Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Hepp D et al.

Plos One, 2015

MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation.

García-Borrón JC et al.

Pigment Cell & Melanoma Research, 2014

Modeling MC1R rare variants: a structural evaluation of variants detected in a Mediterranean case-control study.

Ibarrola-Villava M et al.

The Journal of Investigative Dermatology, 2014

Clinical characteristics of patients with cutaneous melanoma according to variants in the melanocortin 1 receptor gene.

Peña-Vilabelda MM et al.

Actas Dermo-sifiliograficas, 2014

Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

Puig-Butillé JA et al.

The British Journal of Dermatology, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

Functional status and relationships of melanocortin 1 receptor signaling to the cAMP and extracellular signal-regulated protein kinases 1 and 2 pathways in human melanoma cells.

Herraiz C et al.

The International Journal of Biochemistry & Cell Biology, 2012

N-glycosylation of the human melanocortin 1 receptor: occupancy of glycosylation sequons and functional role.

Herraiz C et al.

Pigment Cell & Melanoma Research, 2011

Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.

Ibarrola-Villava M et al.

Experimental Dermatology, 2010

Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.

Pérez Oliva AB et al.

Human Mutation, 2009

MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population.

Fernandez L et al.

Carcinogenesis, 2007

Melanocortin 1 receptor variants: functional role and pigmentary associations.

Dessinioti C et al.

Photochemistry and Photobiology, 0

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