Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.D294N
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MC1R

NM_002386.4:p.D294N

Associated Papers

MC1R loss-of-function is associated with accelerated Parkinson's disease motor decline.

Schumacher JG et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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

Molecular characterization of coat color gene in Sahiwal versus Karan Fries bovine.

Goud TS et al.

Journal, Genetic Engineering & Biotechnology, 2021

Identification and sequence characterization of melanocortin 1 receptor gene (MC1R) in Bos indicus versus (Bos taurus X Bos indicus).

Goud TS et al.

Animal Biotechnology, 2020

The influence of MC1R on dermal morphological features of photo-exposed skin in women revealed by reflectance confocal microscopy and optical coherence tomography.

Guida S et al.

Experimental Dermatology, 2019

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.

Tell-Marti G et al.

Annals of Neurology, 2015

Genetic architecture of human pain perception.

Diatchenko L et al.

Trends in Genetics : Tig, 2007

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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."