Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.D184N
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MC1R

NM_002386.4:p.D184N

Associated Papers

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.

Xing D et al.

Bmc Ophthalmology, 2022

35870892 (PubMed )
Supplement: 12886_2022_2532_MOESM5_ESM.xlsx › Sheet1

Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.

Neitzke-Montinelli V et al.

Plos One, 2022

35452484 (PubMed )
Supplement: pone.0267286.s002.xlsx › S2_Table_

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

Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study.

Li X et al.

Peerj, 2017

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

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

ASSESSMENT OF MC1R AND α-MSH GENE SEQUENCES IN IRANIAN VITILIGO PATIENTS.

Eskandani M et al.

Indian Journal of Dermatology, 2010

Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma.

Kanetsky PA et al.

Cancer Research, 2006

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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."