Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.N279S
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MC1R

NM_002386.4:p.N279S

Associated Papers

Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2026

41673532 (PubMed )
Supplement: PCMR-39-0-s001.xlsx › TableS2

TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.

Jensen MR et al.

Hgg Advances, 2023

37646013 (PubMed )
Supplement: mmc1.pdf

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

The Contribution of Neanderthals to Phenotypic Variation in Modern Humans.

Dannemann M et al.

American Journal of Human Genetics, 2017

28985494 (PubMed )
Supplement: mmc1.pdf

Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.

Guan X et al.

Pigment Cell & Melanoma Research, 2013

Melanocortin 1 receptor (MC1R) genotype influences erythemal sensitivity to psoralen-ultraviolet A photochemotherapy.

Smith G et al.

The British Journal of Dermatology, 2007

Comprehensive evaluation of allele frequency differences of MC1R variants across populations.

Gerstenblith MR et al.

Human Mutation, 2007

Melanocortin-1 receptor: loss of function mutations and skin cancer.

Mumm CD et al.

Dermatology Online Journal, 2006

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

Melanocortin-1 receptor structure and functional regulation.

García-Borrón JC et al.

Pigment Cell Research, 2005

The relation between melanocortin 1 receptor (MC1R) variation and the generation of phenotypic diversity in the cutaneous response to ultraviolet radiation.

Wong TH et al.

Peptides, 2005

Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair.

Ringholm A et al.

The Journal of Investigative Dermatology, 2004

Characterization of melanocortin-1 receptor gene variants in uveal melanoma patients.

Metzelaar-Blok JA et al.

Investigative Ophthalmology & Visual Science, 2001

Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.

Kennedy C et al.

The Journal of Investigative Dermatology, 2001

Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.

Bastiaens MT et al.

American Journal of Human Genetics, 2001

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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."