Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: CYP2A6: K194E; rs199916117

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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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: CYP2A6: 580A>G; Lys194Glu; rs199916117

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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Pharmacogenetics of CYP2A6, CYP2B6, and UGT2B7 in the Context of HIV Treatments in African Populations.

Journal Of Personalized Medicine

Ford, Graeme R GR; Niehaus, Antoinette A; Joubert, Fourie F; Pepper, Michael S MS

Publication Date: 2022-12-05

Variant appearance in text: rs199916117

PubMed Link: 36556234

Variant Present in the following documents:

• Main text
• jpm-12-02013.pdf

View BVdb publication page

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Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.

Clinical And Translational Science

El-Boraie, Ahmed A; Tanner, Julie-Anne JA; Zhu, Andy Z X AZX; Claw, Katrina G KG; Prasad, Bhagwat B; Schuetz, Erin G EG; Thummel, Kenneth E KE; Fukunaga, Koya K; Mushiroda, Taisei T; Kubo, Michiaki M; Benowitz, Neal L NL; Lerman, Caryn C; Tyndale, Rachel F RF

Publication Date: 2022-01

Variant appearance in text: rs199916117

PubMed Link: 34476898

Variant Present in the following documents:

• Main text
• CTS-15-204-s001.pdf
• CTS-15-204.pdf

View BVdb publication page

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Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.

Clinical And Translational Science

El-Boraie, Ahmed A; Tanner, Julie-Anne JA; Zhu, Andy Z X AZX; Claw, Katrina G KG; Prasad, Bhagwat B; Schuetz, Erin G EG; Thummel, Kenneth E KE; Fukunaga, Koya K; Mushiroda, Taisei T; Kubo, Michiaki M; Benowitz, Neal L NL; Lerman, Caryn C; Tyndale, Rachel F RF

Publication Date: 2021-09-03

Variant appearance in text: rs199916117

PubMed Link: 34476898

Variant Present in the following documents:

• Main text
• CTS-15-204-s001.pdf
• CTS-15-204.pdf

View BVdb publication page

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Genetic Variants in Smoking-Related Genes in Two Smoking Cessation Programs: A Cross-Sectional Study.

International Journal Of Environmental Research And Public Health

Pérez-Rubio, Gloria G; López-Flores, Luis Alberto LA; Cupertino, Ana Paula AP; Cartujano-Barrera, Francisco F; Reynales-Shigematsu, Luz Myriam LM; Ramírez, Mariana M; Ellerbeck, Edward F EF; Rodríguez-Bolaños, Rosibel R; Falfan-Valencia, Ramcés R

Publication Date: 2021-06-19

Variant appearance in text: rs199916117

PubMed Link: 34205269

Variant Present in the following documents:

• Main text
• ijerph-18-06597.pdf

View BVdb publication page

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Genetic polymorphisms of the drug-metabolizing enzyme cytochrome P450 2A6 in a Tibetan Chinese population.

International Journal Of Clinical And Experimental Pathology

Xia, Ridong R; Zhu, Xikai X; Chen, Zhengshuai Z; He, Yongjun Y; Kang, Longli L; Yuan, Dongya D; Jin, Tianbo T; Wang, Li L

Publication Date: 2018

Variant appearance in text: CYP2A6: Lys194Glu; rs199916117

PubMed Link: 31949579

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: CYP2A6: K194E

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 12

View BVdb publication page

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An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal

Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM

Publication Date: 2019-04

Variant appearance in text: CYP2A6: K194E; rs199916117

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: CYP2A6: 580A>G; K194E; rs199916117

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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Distribution of polymorphic variants of CYP2A6 and their involvement in nicotine addiction.

Excli Journal

López-Flores, Luis A LA; Pérez-Rubio, Gloria G; Falfán-Valencia, Ramcés R

Publication Date: 2017

Variant appearance in text: CYP2A6: Lys194Glu

PubMed Link: 28507465

Variant Present in the following documents:

• Main text
• EXCLI-16-174.pdf

View BVdb publication page

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: rs199916117

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Frequent alterations in cytoskeleton remodelling genes in primary and metastatic lung adenocarcinomas.

Nature Communications

Wu, Kui K; Zhang, Xin X; Li, Fuqiang F; Xiao, Dakai D; Hou, Yong Y; Zhu, Shida S; Liu, Dongbing D; Ye, Xiaofei X; Ye, Mingzhi M; Yang, Jie J; Shao, Libin L; Pan, Hui H; Lu, Na N; Yu, Yuan Y; Liu, Liping L; Li, Jin J; Huang, Liyan L; Tang, Hailing H; Deng, Qiuhua Q; Zheng, Yue Y; Peng, Lihua L; Liu, Geng G; Gu, Xia X; He, Ping P; Gu, Yingying Y; Lin, Weixuan W; He, Huiming H; Xie, Guoyun G; Liang, Han H; An, Na N; Wang, Hui H; Teixeira, Manuel M; Vieira, Joana J; Liang, Wenhua W; Zhao, Xin X; Peng, Zhiyu Z; Mu, Feng F; Zhang, Xiuqing X; Xu, Xun X; Yang, Huanming H; Kristiansen, Karsten K; Wang, Jian J; Zhong, Nanshan N; Wang, Jun J; Pan-Hammarström, Qiang Q; He, Jianxing J

Publication Date: 2015-12-09

Variant appearance in text: CYP2A6: K194E

PubMed Link: 26647728

Variant Present in the following documents:

• ncomms10131-s8.xlsx, sheet 1

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A Molecular Evolutionary Reference for the Human Variome.

Molecular Biology And Evolution

Liu, Li L; Tamura, Koichiro K; Sanderford, Maxwell M; Gray, Vanessa E VE; Kumar, Sudhir S

Publication Date: 2016-01

Variant appearance in text: CYP2A6: K194E

PubMed Link: 26464126

Variant Present in the following documents:

• Main text

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: CYP2A6: K194E

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CYP2A6: K194E

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: CYP2A6: K194E

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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Inhibitory potency of 8-methoxypsoralen on cytochrome P450 2A6 (CYP2A6) allelic variants CYP2A6 15, CYP2A6 16, CYP2A6 21 and CYP2A6 22: differential susceptibility due to different sequence locations of the mutations.

Plos One

Tiong, Kai Hung KH; Mohammed Yunus, Nafees Ahemad NA; Yiap, Beow Chin BC; Tan, Eng Lai EL; Ismail, Rusli R; Ong, Chin Eng CE

Publication Date: 2014

Variant appearance in text: CYP2A6: K194E

PubMed Link: 24475091

Variant Present in the following documents:

• Main text
• pone.0086230.pdf

View BVdb publication page

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