Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.V92M
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MITF

NM_001354604.2:p.V92M

Associated Papers

Polymorphisms in corticotrophin-releasing hormone-proopiomalanocortin (CRH-POMC) system genes: Neuroimmune contributions to psoriasis disease.

Galimova E et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

TP53 mutations identify high-risk events for peripheral T-cell lymphoma treated with CHOP-based chemotherapy.

Johnson WT et al.

Blood Advances, 2023

37078708 (PubMed )
Supplement: BLOODA_ADV-2023-009953-mmc1.xlsx › S1B_PTCL-NOS_mutations_

Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.

Vergani E et al.

Genes, 2021

The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.

Hubert JN et al.

Cancers, 2021

34067022 (PubMed )
Supplement: cancers-13-02243-s001.zip › Hubert_Suybeng_MelanomaRCC_Supp_Tables_proofread.xlsx › Table_S1

Skin pigmentation and its control: From ultraviolet radiation to stem cells.

Yardman-Frank JM et al.

Experimental Dermatology, 2021

Melanoma Risk and Melanocyte Biology.

Bertrand JU et al.

Acta Dermato-venereologica, 2020

The Melanocortin 1 receptor and its influence on naevi and melanoma in dark-skinned phenotypes.

Smith DJM

The Australasian Journal of Dermatology, 2019

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

Morgan MD et al.

Nature Communications, 2018

Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study.

Li X et al.

Peerj, 2017

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 genetics.

Read J et al.

Journal of Medical Genetics, 2016

Update in genetic susceptibility in melanoma.

Potrony M et al.

Annals of Translational Medicine, 2015

MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project.

Pasquali E et al.

International Journal of Cancer, 2015

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

Wadt KA et al.

Plos One, 2015

Melanocortin MC₁ receptor in human genetics and model systems.

Beaumont KA et al.

European Journal of Pharmacology, 2011

Genetic determinants of hair and eye colours in the Scottish and Danish populations.

Mengel-From J et al.

Bmc Genetics, 2009

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

Gerstenblith MR et al.

Human Mutation, 2007

Melanocortin-1 receptor structure and functional regulation.

García-Borrón JC et al.

Pigment Cell Research, 2005

Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.

Duffy DL et al.

Human Molecular Genetics, 2004

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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."