Publications:

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Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics

Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N

Publication Date: 2023-01-26

Variant appearance in text: rs35040147

PubMed Link: 36703207

Variant Present in the following documents:

• 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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

Frontiers In Surgery

Zhao, Mingkun M; Lin, Xiaohan X; Fang, Yuan Y; Zhuang, Aobo A; Tong, Hanxing H; Lu, Weiqi W; Zhou, Yuhong Y; Zhang, Yong Y

Publication Date: 2022

Variant appearance in text: MC1R: A166G

PubMed Link: 35903259

Variant Present in the following documents:

• Main text
• fsurg-09-935048.pdf

View BVdb publication page

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Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.

Plos One

Neitzke-Montinelli, Vanessa V; da Silva Figueiredo Celestino Gomes, Priscila P; Pascutti, Pedro G PG; Moura-Neto, Rodrigo S RS; Silva, Rosane R

Publication Date: 2022

Variant appearance in text: MC1R: Ala166Gly; rs35040147

PubMed Link: 35452484

Variant Present in the following documents:

• pone.0267286.s002.xlsx, sheet 1

View BVdb publication page

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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T

Publication Date: 2021-12

Variant appearance in text: rs35040147

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T

Publication Date: 2021-12

Variant appearance in text: rs35040147

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: MC1R: 497C>G; Ala166Gly; rs35040147

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: MC1R: A166G

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs35040147

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MC1R: A166G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Plos One

Hepp, Diego D; Gonçalves, Gislene Lopes GL; de Freitas, Thales Renato Ochotorena TR

Publication Date: 2015

Variant appearance in text: MC1R: A166G; rs35040147

PubMed Link: 25794181

Variant Present in the following documents:

View BVdb publication page

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

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: MC1R: A166G; rs35040147

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Germline variation of the melanocortin-1 receptor does not explain shared risk for melanoma and thyroid cancer.

Experimental Dermatology

Bauer, Jürgen J; Weng, Julie J; Kebebew, Electron E; Soares, Paula P; Trovisco, Vitor V; Bastian, Boris C BC

Publication Date: 2009-06

Variant appearance in text: MC1R: A166G

PubMed Link: 19493000

Variant Present in the following documents:

• Main text

View BVdb publication page

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