Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.S41F
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MC1R

NM_002386.4:p.S41F

Associated Papers

A Side-by-Side Comparison of Wildtype and Variant Melanocortin 1 Receptor Signaling with Emphasis on Protection against Oxidative Damage to DNA.

Cerdido S et al.

International Journal of Molecular Sciences, 2023

A genome-wide scan study identifies a single nucleotide substitution in MC1R gene associated with white coat colour in fallow deer (Dama dama).

Reiner G et al.

Bmc Genetics, 2020

Human melanocortin 1 receptor-mediated ubiquitination of nonvisual arrestins. Role of Mahogunin Ring Finger 1 E3 ligase.

Abrisqueta M et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2018

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

Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans.

Martínez-Cadenas C et al.

Molecular Biology and Evolution, 2013

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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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."