Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.G163D
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POMC

NM_000939.4:p.G163D

Associated Papers

Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.

Shah BP et al.

Expert Review of Endocrinology & Metabolism, 2023

36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp3-POMC-OR.xlsx › Sheet1

Molecular characterization of human cutaneous melanoma-derived cell lines.

Ogbah Z et al.

Anticancer Research, 2012

The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.

Brudnik U et al.

Experimental Dermatology, 2009

Polymorphisms of TP53 Arg72Pro, but not p73 G4C14>A4TA4 and p21 Ser31Arg, contribute to risk of cutaneous melanoma.

Li C et al.

The Journal of Investigative Dermatology, 2008

Polymorphism patterns in the promoter region of the MC1R gene are associated with development of freckles and solar lentigines.

Motokawa T et al.

The Journal of Investigative Dermatology, 2008

Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians.

Nakayama K et al.

Human Genetics, 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."