Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.D184H
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MC1R

NM_002386.4:p.D184H

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

The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population.

Ozola A et al.

Oncology Letters, 2019

Detrimental effects of melanocortin-1 receptor (MC1R) variants on the clinical outcomes of BRAF V600 metastatic melanoma patients treated with BRAF inhibitors.

Guida M et al.

Pigment Cell & Melanoma Research, 2016

Melanoma risk associated with MC1R gene variants in Latvia and the functional analysis of rare variants.

Ozola A et al.

Cancer Genetics, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

Pastorino L et al.

Pigment Cell & Melanoma Research, 2008

Comprehensive evaluation of allele frequency differences of MC1R variants across populations.

Gerstenblith MR et al.

Human Mutation, 2007

MC1R germline variants confer risk for BRAF-mutant melanoma.

Landi MT et al.

Science (new York, N.y.), 2006

16809487 (PubMed )
Supplement: landi_som.pdf

MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population.

Landi MT 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."