Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V51A
Back to variants list

MC1R

NM_002386.4:p.V51A

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

Pellegrini C et al.

The Lancet. Child & Adolescent Health, 2019

Functional status and relationships of melanocortin 1 receptor signaling to the cAMP and extracellular signal-regulated protein kinases 1 and 2 pathways in human melanoma cells.

Herraiz C et al.

The International Journal of Biochemistry & Cell Biology, 2012

N-glycosylation of the human melanocortin 1 receptor: occupancy of glycosylation sequons and functional role.

Herraiz C et al.

Pigment Cell & Melanoma Research, 2011

Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.

Pérez Oliva AB et al.

Human Mutation, 2009

Melanocortin 1 receptor variants: functional role and pigmentary associations.

Dessinioti C et al.

Photochemistry and Photobiology, 0

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."