Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.P268R
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MC1R

NM_002386.4:p.P268R

Associated Papers

Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.

Vande Perre P et al.

International Journal of Molecular Sciences, 2025

40429818 (PubMed )
Supplement: ijms-26-04672-s001.zip › ijms-3598274-supplementary.xlsx › Supporting_information_Table_S1

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

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

Tell-Marti G et al.

Annals of Neurology, 2015

Modeling MC1R rare variants: a structural evaluation of variants detected in a Mediterranean case-control study.

Ibarrola-Villava M et al.

The Journal of Investigative Dermatology, 2014

Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans.

Martínez-Cadenas C et al.

Molecular Biology and Evolution, 2013

Role of glutathione S-transferases in melanoma susceptibility: association with GSTP1 rs1695 polymorphism.

Ibarrola-Villava M et al.

The British Journal of Dermatology, 2012

Sequence polymorphisms of MC1R gene and their association with depression and antidepressant response.

Wu GS et al.

Psychiatric Genetics, 2011

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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."