Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.I40T
Back to variants list

MC1R

NM_002386.4:p.I40T

Associated Papers

The protective role of MC1R in chromosome stability and centromeric integrity in melanocytes.

Li X et al.

Cell Death Discovery, 2021

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

MC1R is a potent regulator of PTEN after UV exposure in melanocytes.

Cao J et al.

Molecular Cell, 2013

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

Gerstenblith MR et al.

Human Mutation, 2007

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

Tao YX

Pharmacology & Therapeutics, 2006

[Genetic predisposition in cutaneous melanoma].

Avilés JA et al.

Actas Dermo-sifiliograficas, 2006

Melanocortin-1 receptor structure and functional regulation.

García-Borrón JC et al.

Pigment Cell Research, 2005

Detection of MC1R polymorphisms with protease-mediated allele-specific extension as an alternative to direct sequencing.

Käller M et al.

Clinical Chemistry, 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

Gene polymorphisms and their effects in the melanocortin system.

Carroll L et al.

Peptides, 2005

MC1R and the response of melanocytes to ultraviolet radiation.

Rouzaud F et al.

Mutation Research, 2005

Agonist-independent, high constitutive activity of the human melanocortin 1 receptor.

Sánchez-Más J et al.

Pigment Cell Research, 2004

Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure.

Matichard E et al.

Journal of Medical Genetics, 2004

Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor.

Jiménez-Cervantes C et al.

Febs Letters, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."