Publications:

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: ATM: C540Y

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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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: ATM: 1619G>A; C540Y

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: ATM: C540Y

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: ATM: 1619G>A; C540Y

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Neuroscience Bulletin

Xu, Xing-Xing XX; Luo, Jian-Hong JH

Publication Date: 2018-06

Variant appearance in text: ATD: 1619G>A

PubMed Link: 29124671

Variant Present in the following documents:

• Main text

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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Journal Of Medical Genetics

Platzer, Konrad K; Yuan, Hongjie H; Schütz, Hannah H; Winschel, Alexander A; Chen, Wenjuan W; Hu, Chun C; Kusumoto, Hirofumi H; Heyne, Henrike O HO; Helbig, Katherine L KL; Tang, Sha S; Willing, Marcia C MC; Tinkle, Brad T BT; Adams, Darius J DJ; Depienne, Christel C; Keren, Boris B; Mignot, Cyril C; Frengen, Eirik E; Strømme, Petter P; Biskup, Saskia S; Döcker, Dennis D; Strom, Tim M TM; Mefford, Heather C HC; Myers, Candace T CT; Muir, Alison M AM; LaCroix, Amy A; Sadleir, Lynette L; Scheffer, Ingrid E IE; Brilstra, Eva E; van Haelst, Mieke M MM; van der Smagt, Jasper J JJ; Bok, Levinus A LA; Møller, Rikke S RS; Jensen, Uffe B UB; Millichap, John J JJ; Berg, Anne T AT; Goldberg, Ethan M EM; De Bie, Isabelle I; Fox, Stephanie S; Major, Philippe P; Jones, Julie R JR; Zackai, Elaine H EH; Abou Jamra, Rami R; Rolfs, Arndt A; Leventer, Richard J RJ; Lawson, John A JA; Roscioli, Tony T; Jansen, Floor E FE; Ranza, Emmanuelle E; Korff, Christian M CM; Lehesjoki, Anna-Elina AE; Courage, Carolina C; Linnankivi, Tarja T; Smith, Douglas R DR; Stanley, Christine C; Mintz, Mark M; McKnight, Dianalee D; Decker, Amy A; Tan, Wen-Hann WH; Tarnopolsky, Mark A MA; Brady, Lauren I LI; Wolff, Markus M; Dondit, Lutz L; Pedro, Helio F HF; Parisotto, Sarah E SE; Jones, Kelly L KL; Patel, Anup D AD; Franz, David N DN; Vanzo, Rena R; Marco, Elysa E; Ranells, Judith D JD; Di Donato, Nataliya N; Dobyns, William B WB; Laube, Bodo B; Traynelis, Stephen F SF; Lemke, Johannes R JR

Publication Date: 2017-07

Variant appearance in text: ATD: 1619G>A

PubMed Link: 28377535

Variant Present in the following documents:

• Main text

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Human GRIN2B variants in neurodevelopmental disorders.

Journal Of Pharmacological Sciences

Hu, Chun C; Chen, Wenjuan W; Myers, Scott J SJ; Yuan, Hongjie H; Traynelis, Stephen F SF

Publication Date: 2016-10

Variant appearance in text: ATD: 1619G>A

PubMed Link: 27818011

Variant Present in the following documents:

• Main text
• nihms830120.pdf

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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: ATM: C540Y

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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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: ATM: C540Y

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

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Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

Plos One

George Priya Doss, C C; Rajith, B B

Publication Date: 2012

Variant appearance in text: ATM: C540Y

PubMed Link: 22529920

Variant Present in the following documents:

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: ATM: C540Y

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Domain organization and function in GluK2 subtype kainate receptors.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Das, Utpal U; Kumar, Janesh J; Mayer, Mark L ML; Plested, Andrew J R AJ

Publication Date: 2010-05-04

Variant appearance in text: ATD: C540Y

PubMed Link: 20404149

Variant Present in the following documents:

• Main text

View BVdb publication page

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