Publications:

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Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: HCAR2: 592T>C; Phe198Leu; rs676823

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: HCAR2: F198L

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease

Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2022-04-22

Variant appearance in text: HCAR2: F198L

PubMed Link: 35459861

Variant Present in the following documents:

• 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: HCAR2: F198L

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.

Oncogene

Mota, Alba A; Oltra, Sara S SS; Selenica, Pier P; Moiola, Cristian P CP; Casas-Arozamena, Carlos C; López-Gil, Carlos C; Diaz, Eva E; Gatius, Sonia S; Ruiz-Miro, María M; Calvo, Ana A; Rojo-Sebastián, Alejandro A; Hurtado, Pablo P; Piñeiro, Roberto R; Colas, Eva E; Gil-Moreno, Antonio A; Reis-Filho, Jorge S JS; Muinelo-Romay, Laura L; Abal, Miguel M; Matias-Guiu, Xavier X; Weigelt, Britta B; Moreno-Bueno, Gema G

Publication Date: 2022-03

Variant appearance in text: HCAR2: F198L

PubMed Link: 35145232

Variant Present in the following documents:

• 41388_2022_2221_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

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Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases.

Bmc Medical Genomics

McGuire Sams, Cierla C; Shepp, Kasey K; Pugh, Jada J; Bishop, Madison R MR; Merner, Nancy D ND

Publication Date: 2021-12-01

Variant appearance in text: HCAR2: 592T>C; F198L

PubMed Link: 34852802

Variant Present in the following documents:

• 12920_2021_1126_MOESM1_ESM.pdf

View BVdb publication page

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Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases.

Bmc Medical Genomics

McGuire Sams, Cierla C; Shepp, Kasey K; Pugh, Jada J; Bishop, Madison R MR; Merner, Nancy D ND

Publication Date: 2021-12-01

Variant appearance in text: HCAR2: 592T>C; F198L

PubMed Link: 34852802

Variant Present in the following documents:

• 12920_2021_1126_MOESM1_ESM.pdf

View BVdb publication page

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Genomic and Transcriptomic Characterization of Relapsed SCLC Through Rapid Research Autopsy.

Jto Clinical And Research Reports

Chen, Hui-Zi HZ; Bonneville, Russell R; Paruchuri, Anoosha A; Reeser, Julie W JW; Wing, Michele R MR; Samorodnitsky, Eric E; Krook, Melanie A MA; Smith, Amy M AM; Dao, Thuy T; Miya, Jharna J; Wang, Walter W; Yu, Lianbo L; Freud, Aharon G AG; Allenby, Patricia P; Cole, Sharon S; Otterson, Gregory G; Shields, Peter P; Carbone, David P DP; Roychowdhury, Sameek S

Publication Date: 2021-04

Variant appearance in text: HCAR2: F198L; rs676823

PubMed Link: 34590014

Variant Present in the following documents:

• mmc5.xlsx, sheet 13
• mmc5.xlsx, sheet 8
• mmc5.xlsx, sheet 7
• mmc5.xlsx, sheet 10
• mmc5.xlsx, sheet 5
• mmc5.xlsx, sheet 9
• mmc5.xlsx, sheet 4

View BVdb publication page

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Whole-genome profiling of nasopharyngeal carcinoma reveals viral-host co-operation in inflammatory NF-κB activation and immune escape.

Nature Communications

Bruce, Jeff P JP; To, Ka-Fai KF; Lui, Vivian W Y VWY; Chung, Grace T Y GTY; Chan, Yuk-Yu YY; Tsang, Chi Man CM; Yip, Kevin Y KY; Ma, Brigette B Y BBY; Woo, John K S JKS; Hui, Edwin P EP; Mak, Michael K F MKF; Lee, Sau-Dan SD; Chow, Chit C; Velapasamy, Sharmila S; Or, Yvonne Y Y YYY; Siu, Pui Kei PK; El Ghamrasni, Samah S; Prokopec, Stephenie S; Wu, Man M; Kwan, Johnny S H JSH; Liu, Yuchen Y; Chan, Jason Y K JYK; van Hasselt, C Andrew CA; Young, Lawrence S LS; Dawson, Christopher W CW; Paterson, Ian C IC; Yap, Lee-Fah LF; Tsao, Sai-Wah SW; Liu, Fei-Fei FF; Chan, Anthony T C ATC; Pugh, Trevor J TJ; Lo, Kwok-Wai KW

Publication Date: 2021-07-07

Variant appearance in text: HCAR2: 592T>C; F198L; rs676823

PubMed Link: 34234122

Variant Present in the following documents:

• 41467_2021_24348_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic and transcriptomic analysis of pituitary adenomas reveals the impacts of copy number variations on gene expression and clinical prognosis among prolactin-secreting subtype.

Aging

Chen, Yiyuan Y; Gao, Hua H; Xie, Weiyan W; Guo, Jing J; Fang, Qiuyue Q; Zhao, Peng P; Liu, Chunhui C; Zhu, Haibo H; Wang, Zhuang Z; Wang, Jichao J; Gui, Songbai S; Zhang, Yazhuo Y; Li, Chuzhong C

Publication Date: 2020-12-19

Variant appearance in text: HCAR2: F198L; rs676823

PubMed Link: 33472173

Variant Present in the following documents:

• aging-13-202304-s003.xlsx, sheet 1

View BVdb publication page

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Discovery of a molecular glue promoting CDK12-DDB1 interaction to trigger cyclin K degradation.

Elife

Lv, Lu L; Chen, Peihao P; Cao, Longzhi L; Li, Yamei Y; Zeng, Zhi Z; Cui, Yue Y; Wu, Qingcui Q; Li, Jiaojiao J; Wang, Jian-Hua JH; Dong, Meng-Qiu MQ; Qi, Xiangbing X; Han, Ting T

Publication Date: 2020-08-17

Variant appearance in text: HCAR2: F198L

PubMed Link: 32804079

Variant Present in the following documents:

• elife-59994-fig2-data2.xlsx, sheet 3

View BVdb publication page

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Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Nature

Suzuki, Hiromichi H; Kumar, Sachin A SA; Shuai, Shimin S; Diaz-Navarro, Ander A; Gutierrez-Fernandez, Ana A; De Antonellis, Pasqualino P; Cavalli, Florence M G FMG; Juraschka, Kyle K; Farooq, Hamza H; Shibahara, Ichiyo I; Vladoiu, Maria C MC; Zhang, Jiao J; Abeysundara, Namal N; Przelicki, David D; Skowron, Patryk P; Gauer, Nicole N; Luu, Betty B; Daniels, Craig C; Wu, Xiaochong X; Forget, Antoine A; Momin, Ali A; Wang, Jun J; Dong, Weifan W; Kim, Seung-Ki SK; Grajkowska, Wieslawa A WA; Jouvet, Anne A; Fèvre-Montange, Michelle M; Garrè, Maria Luisa ML; Nageswara Rao, Amulya A AA; Giannini, Caterina C; Kros, Johan M JM; French, Pim J PJ; Jabado, Nada N; Ng, Ho-Keung HK; Poon, Wai Sang WS; Eberhart, Charles G CG; Pollack, Ian F IF; Olson, James M JM; Weiss, William A WA; Kumabe, Toshihiro T; López-Aguilar, Enrique E; Lach, Boleslaw B; Massimino, Maura M; Van Meir, Erwin G EG; Rubin, Joshua B JB; Vibhakar, Rajeev R; Chambless, Lola B LB; Kijima, Noriyuki N; Klekner, Almos A; Bognár, László L; Chan, Jennifer A JA; Faria, Claudia C CC; Ragoussis, Jiannis J; Pfister, Stefan M SM; Goldenberg, Anna A; Wechsler-Reya, Robert J RJ; Bailey, Swneke D SD; Garzia, Livia L; Morrissy, A Sorana AS; Marra, Marco A MA; Huang, Xi X; Malkin, David D; Ayrault, Olivier O; Ramaswamy, Vijay V; Puente, Xose S XS; Calarco, John A JA; Stein, Lincoln L; Taylor, Michael D MD

Publication Date: 2019-10

Variant appearance in text: HCAR2: F198L

PubMed Link: 31664194

Variant Present in the following documents:

• NIHMS1539056-supplement-2.xlsx, sheet 5

View BVdb publication page

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Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Bmc Medical Genetics

Sha, Yanwei Y; Ma, Ding D; Zhang, Ning N; Wei, Xiaoli X; Liu, Wensheng W; Wang, Xiong X

Publication Date: 2019-08-01

Variant appearance in text: HCAR2: F198L; rs676823

PubMed Link: 31370824

Variant Present in the following documents:

• 12881_2019_864_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Evaluation of Multiparametric Magnetic Resonance Imaging-visible and -nonvisible Lesions in Clinically Localised Prostate Cancer.

European Urology Oncology

Parry, Marina A MA; Srivastava, Shambhavi S; Ali, Adnan A; Cannistraci, Alessio A; Antonello, Jenny J; Barros-Silva, João Diogo JD; Ubertini, Valentina V; Ramani, Vijay V; Lau, Maurice M; Shanks, Jonathan J; Nonaka, Daisuke D; Oliveira, Pedro P; Hambrock, Thomas T; Leong, Hui Sun HS; Dhomen, Nathalie N; Miller, Crispin C; Brady, Ged G; Dive, Caroline C; Clarke, Noel W NW; Marais, Richard R; Baena, Esther E

Publication Date: 2019-02

Variant appearance in text: HCAR2: F198L; rs676823

PubMed Link: 30929837

Variant Present in the following documents:

• mmc7.xlsx, sheet 1
• mmc6.xlsx, sheet 3

View BVdb publication page

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The genomic landscape of TERT promoter wildtype-IDH wildtype glioblastoma.

Nature Communications

Diplas, Bill H BH; He, Xujun X; Brosnan-Cashman, Jacqueline A JA; Liu, Heng H; Chen, Lee H LH; Wang, Zhaohui Z; Moure, Casey J CJ; Killela, Patrick J PJ; Loriaux, Daniel B DB; Lipp, Eric S ES; Greer, Paula K PK; Yang, Rui R; Rizzo, Anthony J AJ; Rodriguez, Fausto J FJ; Friedman, Allan H AH; Friedman, Henry S HS; Wang, Sizhen S; He, Yiping Y; McLendon, Roger E RE; Bigner, Darell D DD; Jiao, Yuchen Y; Waitkus, Matthew S MS; Meeker, Alan K AK; Yan, Hai H

Publication Date: 2018-05-25

Variant appearance in text: HCAR2: F198L; rs676823

PubMed Link: 29802247

Variant Present in the following documents:

• 41467_2018_4448_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Nature Communications

Dufva, Olli O; Kankainen, Matti M; Kelkka, Tiina T; Sekiguchi, Nodoka N; Awad, Shady Adnan SA; Eldfors, Samuli S; Yadav, Bhagwan B; Kuusanmäki, Heikki H; Malani, Disha D; Andersson, Emma I EI; Pietarinen, Paavo P; Saikko, Leena L; Kovanen, Panu E PE; Ojala, Teija T; Lee, Dean A DA; Loughran, Thomas P TP; Nakazawa, Hideyuki H; Suzumiya, Junji J; Suzuki, Ritsuro R; Ko, Young Hyeh YH; Kim, Won Seog WS; Chuang, Shih-Sung SS; Aittokallio, Tero T; Chan, Wing C WC; Ohshima, Koichi K; Ishida, Fumihiro F; Mustjoki, Satu S

Publication Date: 2018-04-19

Variant appearance in text: HCAR2: F198L; rs676823

PubMed Link: 29674644

Variant Present in the following documents:

• 41467_2018_3987_MOESM6_ESM.xlsx, sheet 15
• 41467_2018_3987_MOESM6_ESM.xlsx, sheet 10
• 41467_2018_3987_MOESM6_ESM.xlsx, sheet 8

View BVdb publication page

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Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports

Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L

Publication Date: 2017-11-10

Variant appearance in text: HCAR2: 592T>C; F198L

PubMed Link: 29127303

Variant Present in the following documents:

• 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1

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: HCAR2: F198L

PubMed Link: 26647728

Variant Present in the following documents:

• ncomms10131-s8.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: HCAR2: F198L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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The association of common SNPs and haplotypes in CETP gene with HDL cholesterol levels in Latvian population.

Plos One

Radovica, Ilze I; Fridmanis, Davids D; Vaivade, Iveta I; Nikitina-Zake, Liene L; Klovins, Janis J

Publication Date: 2013

Variant appearance in text: rs676823

PubMed Link: 23675527

Variant Present in the following documents:

• Main text
• pone.0064191.pdf

View BVdb publication page

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Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence.

Bioinformatics (Oxford, England)

Saccone, Scott F SF; Saccone, Nancy L NL; Swan, Gary E GE; Madden, Pamela A F PA; Goate, Alison M AM; Rice, John P JP; Bierut, Laura J LJ

Publication Date: 2008-08-15

Variant appearance in text: rs676823

PubMed Link: 18565990

Variant Present in the following documents:

• Main text

View BVdb publication page

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