Varaico: Literature-Extracted Genetic Variants

Gene:MFSD12
Variant:p.Y182H
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MFSD12

NM_174983.5:p.Y182H

Associated Papers

A genome-wide association analysis reveals new pathogenic pathways in gout.

Major TJ et al.

Nature Genetics, 2024

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST5_GWAS_Loci_BBJ_NCGG

Skin pigmentation related variants in Mexican population and interaction effects on serum 25(OH)D concentration and vitamin D deficiency.

Rivera-Paredez B et al.

Scientific Reports, 2024

Mapping and annotating genomic loci to prioritize genes and implicate distinct polygenic adaptations for skin color.

Kim B et al.

Nature Communications, 2024

38849341 (PubMed )
Supplement: 41467_2024_49031_MOESM4_ESM.xlsx › Data_5

Skin colour: A window into human phenotypic evolution and environmental adaptation.

Liu J et al.

Molecular Ecology, 2024

The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color.

Watkins-Chow DE et al.

Pigment Cell & Melanoma Research, 2024

Genetic landscape of forensic DNA phenotyping markers among Mediterranean populations.

Becher D et al.

Forensic Science International, 2024

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population.

Ang KC et al.

Elife, 2023

Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.

Liu Z et al.

Nature Genetics, 2023

Evolutionary genetics of skin pigmentation in African populations.

Feng Y et al.

Human Molecular Genetics, 2021

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Genomic profiling of colorectal cancer with isolated lung metastasis.

Zhang N et al.

Cancer Cell International, 2020

32624706 (PubMed )
Supplement: 12935_2020_1373_MOESM3_ESM.xlsx › Sheet1

Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.

Tanaka J et al.

Genes, 2019

A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.

Adhikari K et al.

Nature Communications, 2019

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
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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."