Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.G12C
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MC1R

NM_002386.4:p.G12C

Associated Papers

Genetic Alterations in the INK4a/ARF Locus: Effects on Melanoma Development and Progression.

Ming Z et al.

Biomolecules, 2020

Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants.

Li C et al.

Melanoma Research, 2020

In vitro behavior and UV response of melanocytes derived from carriers of CDKN2A mutations and MC1R variants.

Hernando B et al.

Pigment Cell & Melanoma Research, 2019

Potential Causative Mutation for Melanism in Rats Identified in the Agouti Signaling Protein Gene (Asip) of the Rattus rattus Species Complex on Okinawa Island, Japan.

Sasamori S et al.

Zoological Science, 2017

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

Puig S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma.

Andreotti V et al.

Pigment Cell & Melanoma Research, 2016

Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma.

de Ávila AL et al.

Familial Cancer, 2014

Benefits of oral Polypodium Leucotomos extract in MM high-risk patients.

Aguilera P et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013

Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.

Cust AE et al.

Journal of Medical Genetics, 2011

CDKN2A mutations in melanoma families from Uruguay.

Larre Borges A et al.

The British Journal of Dermatology, 2009

Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.

Begg CB et al.

Journal of the National Cancer Institute, 2005

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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."