Publications:

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: 225: 1163G>A

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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TK216 targets microtubules in Ewing sarcoma cells.

Cell Chemical Biology

Povedano, Juan Manuel JM; Li, Vicky V; Lake, Katherine E KE; Bai, Xin X; Rallabandi, Rameshu R; Kim, Jiwoong J; Xie, Yang Y; De Brabander, Jef K JK; McFadden, David G DG

Publication Date: 2022-08-18

Variant appearance in text: 225: 1163G>A

PubMed Link: 35803262

Variant Present in the following documents:

• mmc2.xlsx, sheet 2

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: 225: R388H

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: 225: R388H

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: 225: R388H

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

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North-Western Himalayan Common Beans: Population Structure and Mapping of Quantitative Anthracnose Resistance Through Genome Wide Association Study.

Frontiers In Plant Science

Banoo, Aqleema A; Nabi, Asha A; Rasool, Rovidha S RS; Mahiya-Farooq, ; Shah, Mehraj D MD; Ahmad, Mushtaq M; Sofi, Parvaze A PA; Aasiya-Nabi, ; Itoo, Hamidullah H; Sharma, P N PN; Padder, Bilal A BA

Publication Date: 2020

Variant appearance in text: 225: 1163G>A

PubMed Link: 33123180

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Identification of Single Nucleotide Polymorphism in Red Clover (Trifolium pratense L.) Using Targeted Genomic Amplicon Sequencing and RNA-seq.

Frontiers In Plant Science

Li, Wenli W; Riday, Heathcliffe H; Riehle, Christina C; Edwards, Andrea A; Dinkins, Randy R

Publication Date: 2019

Variant appearance in text: 225: 1163G>A

PubMed Link: 31708937

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

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Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.

Nature Communications

Wagner, Alex H AH; Devarakonda, Siddhartha S; Skidmore, Zachary L ZL; Krysiak, Kilannin K; Ramu, Avinash A; Trani, Lee L; Kunisaki, Jason J; Masood, Ashiq A; Waqar, Saiama N SN; Spies, Nicholas C NC; Morgensztern, Daniel D; Waligorski, Jason J; Ponce, Jennifer J; Fulton, Robert S RS; Maggi, Leonard B LB; Weber, Jason D JD; Watson, Mark A MA; O'Conor, Christopher J CJ; Ritter, Jon H JH; Olsen, Rachelle R RR; Cheng, Haixia H; Mukhopadhyay, Anandaroop A; Can, Ismail I; Cessna, Melissa H MH; Oliver, Trudy G TG; Mardis, Elaine R ER; Wilson, Richard K RK; Griffith, Malachi M; Griffith, Obi L OL; Govindan, Ramaswamy R

Publication Date: 2018-09-17

Variant appearance in text: 225: R388H

PubMed Link: 30224629

Variant Present in the following documents:

• 41467_2018_6162_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.

Leukemia

Bolli, Niccolo N; Biancon, Giulia G; Moarii, Matahi M; Gimondi, Silvia S; Li, Yilong Y; de Philippis, Chiara C; Maura, Francesco F; Sathiaseelan, Vijitha V; Tai, Yu-Tzu YT; Mudie, Laura L; O'Meara, Sarah S; Raine, Keiran K; Teague, Jon W JW; Butler, Adam P AP; Carniti, Cristiana C; Gerstung, Moritz M; Bagratuni, Tina T; Kastritis, Efstathios E; Dimopoulos, Meletios M; Corradini, Paolo P; Anderson, Kenneth C KC; Moreau, Philippe P; Minvielle, Stephane S; Campbell, Peter J PJ; Papaemmanuil, Elli E; Avet-Loiseau, Herve H; Munshi, Nikhil C NC

Publication Date: 2018-12

Variant appearance in text: EGR1: R388H

PubMed Link: 29789651

Variant Present in the following documents:

• 41375_2018_37_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: 225: 1163G>A

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications

Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M

Publication Date: 2017-02-14

Variant appearance in text: 225: 1163G>A

PubMed Link: 28195122

Variant Present in the following documents:

• ncomms14433-s3.xlsx, sheet 3

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: EGR1: R388H

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Design of Novel Relaxase Substrates Based on Rolling Circle Replicases for Bioconjugation to DNA Nanostructures.

Plos One

Sagredo, Sandra S; de la Cruz, Fernando F; Moncalián, Gabriel G

Publication Date: 2016

Variant appearance in text: 225: R388H

PubMed Link: 27027740

Variant Present in the following documents:

• Main text
• pone.0152666.pdf

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: 225: 1163G>A

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.

Biomed Research International

Zhao, Yue Y; Feng, Yue Y; Zhang, Yun-Mei YM; Ding, Xiao-Xue XX; Song, Yu-Zhu YZ; Zhang, A-Mei AM; Liu, Li L; Zhang, Hong H; Ding, Jia-Huan JH; Xia, Xue-Shan XS

Publication Date: 2015

Variant appearance in text: 225: Arg388His

PubMed Link: 26199943

Variant Present in the following documents:

• Main text
• BMRI2015-561819.pdf

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: 225: R388H

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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