Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.R151H
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MC1R

NM_002386.4:p.R151H

Associated Papers

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

Mutations in ASIP and MC1R: dominant black and recessive black alleles segregate in native Swedish sheep populations.

Rochus CM et al.

Animal Genetics, 2019

MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort.

Pellegrini C et al.

The Lancet. Child & Adolescent Health, 2019

Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Hepp D et al.

Plos One, 2015

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

Pastorino L et al.

Pigment Cell & Melanoma Research, 2008

Effect of MELANOTAN, [Nle(4), D-Phe(7)]-alpha-MSH, on melanin synthesis in humans with MC1R variant alleles.

Fitzgerald LM et al.

Peptides, 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."