Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A299T
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MC1R

NM_002386.4:p.A299T

Associated Papers

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

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Hu HH et al.

Biomed Research International, 2014

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

Kanetsky PA et al.

Cancer Research, 2006

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

The melanocortin-1 receptor and human pigmentation.

Abdel-Malek Z et al.

Annals of the New York Academy of Sciences, 1999

Molecular analysis of a new splice variant of the human melanocortin-1 receptor.

Tan CP et al.

Febs Letters, 1999

Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.

Box NF et al.

Human Molecular Genetics, 1997

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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."