Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.C315S
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MC1R

NM_002386.4:p.C315S

Associated Papers

Melanocortin 1 receptor mediates melanin production by interacting with the BBSome in primary cilia.

Tian X et al.

Plos Biology, 2024

AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis.

Sun Y et al.

Cancer Research, 2023

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

Targeting MC1R depalmitoylation to prevent melanomagenesis in redheads.

Chen S et al.

Nature Communications, 2019

cAMP-mediated regulation of melanocyte genomic instability: A melanoma-preventive strategy.

Holcomb NC et al.

Advances in Protein Chemistry and Structural Biology, 2019

Palmitoylation-dependent activation of MC1R prevents melanomagenesis.

Chen S et al.

Nature, 2017

Germline variation of the melanocortin-1 receptor does not explain shared risk for melanoma and thyroid cancer.

Bauer J et al.

Experimental Dermatology, 2009

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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."