Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.N56D
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MC1R

NM_002386.4:p.N56D

Associated Papers

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Case Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome.

Zhao M et al.

Frontiers in Surgery, 2022

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.

Tell-Marti G et al.

Annals of Neurology, 2015

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."