IDH1 c.395_396delinsAA ;(p.R132Q)

Variant ID: 2-209113111-AC-TT

NM_005896.2(IDH1):c.395_396delinsAA;(p.R132Q)

This variant was identified in 29 publications

View GRCh38 version.




Publications:


The regulatory mechanisms and inhibitors of isocitrate dehydrogenase 1 in cancer.

Acta Pharmaceutica Sinica. B
Liu, Yang Y; Xu, Wei W; Li, Mingxue M; Yang, Yueying Y; Sun, Dejuan D; Chen, Lidian L; Li, Hua H; Chen, Lixia L
Publication Date: 2023-04

Variant appearance in text: IDH1: R132Q
PubMed Link: 37139412
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct Roles of Glutamine Metabolism in Benign and Malignant Cartilage Tumors With IDH Mutations.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Zhang, Hongyuan H; Puviindran, Vijitha V; Nadesan, Puviindran P; Ding, Xiruo X; Shen, Leyao L; Tang, Yuning J YJ; Tsushima, Hidetoshi H; Yahara, Yasuhito Y; Ban, Ga I GI; Zhang, Guo-Fang GF; Karner, Courtney M CM; Alman, Benjamin A BA
Publication Date: 2022-05

Variant appearance in text: IDH1: R132Q
PubMed Link: 35220602
Variant Present in the following documents:
  • Main text
  • JBMR-37-983.pdf
View BVdb publication page



Probing altered enzyme activity in the biochemical characterization of cancer.

Bioscience Reports
Adam, Mowaffaq Adam Ahmed MAA; Sohl, Christal D CD
Publication Date: 2022-01-20

Variant appearance in text: IDH1: R132Q
PubMed Link: 35048115
Variant Present in the following documents:
  • Main text
  • bsr-42-bsr20212002.pdf
View BVdb publication page



Probing altered enzyme activity in the biochemical characterization of cancer.

Bioscience Reports
Adam, Mowaffaq Adam Ahmed MAA; Sohl, Christal D CD
Publication Date: 2022-02-25

Variant appearance in text: IDH1: R132Q
PubMed Link: 35048115
Variant Present in the following documents:
  • Main text
  • bsr-42-bsr20212002.pdf
View BVdb publication page



Genomic Abnormalities as Biomarkers and Therapeutic Targets in Acute Myeloid Leukemia.

Cancers
Ribeiro, Sara S; Eiring, Anna M AM; Khorashad, Jamshid S JS
Publication Date: 2021-10-09

Variant appearance in text: IDH1: R132Q
PubMed Link: 34680203
Variant Present in the following documents:
  • Main text
  • cancers-13-05055.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: IDH1: R132Q
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Targeting Mitochondrial Oncometabolites: A New Approach to Overcome Drug Resistance in Cancer.

Pharmaceutics
Godel, Martina M; Ortone, Giacomo G; Anobile, Dario Pasquale DP; Pasino, Martina M; Randazzo, Giulio G; Riganti, Chiara C; Kopecka, Joanna J
Publication Date: 2021-05-20

Variant appearance in text: IDH1: R132Q
PubMed Link: 34065551
Variant Present in the following documents:
  • Main text
  • pharmaceutics-13-00762.pdf
View BVdb publication page



Enchondromatosis and Growth Plate Development.

Current Osteoporosis Reports
Zhang, Hongyuan H; Alman, Benjamin A BA
Publication Date: 2021-02

Variant appearance in text: IDH1: R132Q
PubMed Link: 33306166
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of Metabolism in Bone Development and Homeostasis.

International Journal Of Molecular Sciences
Suzuki, Akiko A; Minamide, Mina M; Iwaya, Chihiro C; Ogata, Kenichi K; Iwata, Junichi J
Publication Date: 2020-11-26

Variant appearance in text: IDH1: R132Q
PubMed Link: 33256181
Variant Present in the following documents:
  • Main text
  • ijms-21-08992.pdf
View BVdb publication page



A Glance of p53 Functions in Brain Development, Neural Stem Cells, and Brain Cancer.

Biology
Xiong, Yuqing Y; Zhang, Yun Y; Xiong, Shunbin S; Williams-Villalobo, Abie E AE
Publication Date: 2020-09-11

Variant appearance in text: IDH1: R132Q
PubMed Link: 32932978
Variant Present in the following documents:
  • Main text
  • biology-09-00285.pdf
View BVdb publication page



The epigenomics of sarcoma.

Nature Reviews. Cancer
Nacev, Benjamin A BA; Jones, Kevin B KB; Intlekofer, Andrew M AM; Yu, Jamie S E JSE; Allis, C David CD; Tap, William D WD; Ladanyi, Marc M; Nielsen, Torsten O TO
Publication Date: 2020-10

Variant appearance in text: IDH1: R132Q
PubMed Link: 32782366
Variant Present in the following documents:
  • Main text
View BVdb publication page



Wild-Type IDH1 and Mutant IDH1 Opposingly Regulate Podoplanin Expression in Glioma.

Translational Oncology
Sun, Chao C; Xiao, Liming L; Zhao, Yuanlin Y; Shi, Jiankuan J; Yuan, Yuan Y; Gu, Yu Y; Zhang, Feng F; Gao, Xing X; Yang, Ying Y; Yang, Risheng R; Qin, Junhui J; Zhang, Jin J; Wang, Chao C; Wang, Yingmei Y; Wang, Zhe Z; Hu, Peizhen P; Chang, Ting T; Wang, Liang L; Wang, Gang G; Chen, Huangtao H; Li, Zhuyi Z; Ye, Jing J
Publication Date: 2020-04

Variant appearance in text: IDH1: R132Q
PubMed Link: 32208352
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: IDH1: R132Q
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 11
View BVdb publication page



Water Networks and Correlated Motions in Mutant Isocitrate Dehydrogenase 1 (IDH1) Are Critical for Allosteric Inhibitor Binding and Activity.

Biochemistry
Chambers, Jennifer M JM; Miller, Wade W; Quichocho, Giovanni G; Upadhye, Viraj V; Matteo, Diego Avellaneda DA; Bobkov, Andrey A AA; Sohl, Christal D CD; Schiffer, Jamie M JM
Publication Date: 2020-02-04

Variant appearance in text: IDH1: R132Q
PubMed Link: 31869219
Variant Present in the following documents:
  • Main text
View BVdb publication page



2-Hydroxyglutarate in Cancer Cells.

Antioxidants & Redox Signaling
Ježek, Petr P
Publication Date: 2020-11-01

Variant appearance in text: IDH1: R132Q
PubMed Link: 31847543
Variant Present in the following documents:
  • Main text
View BVdb publication page



Enrichment of Aldolase C Correlates with Low Non-Mutated IDH1 Expression and Predicts a Favorable Prognosis in Glioblastomas.

Cancers
Chang, Yu-Chan YC; Tsai, Hsing-Fang HF; Huang, Shang-Pen SP; Chen, Chi-Long CL; Hsiao, Michael M; Tsai, Wen-Chiuan WC
Publication Date: 2019-08-23

Variant appearance in text: IDH1: R132Q
PubMed Link: 31450822
Variant Present in the following documents:
  • Main text
  • cancers-11-01238.pdf
View BVdb publication page



Intracellular cholesterol biosynthesis in enchondroma and chondrosarcoma.

Jci Insight
Zhang, Hongyuan H; Wei, Qingxia Q; Tsushima, Hidetoshi H; Puviindran, Vijitha V; Tang, Yuning J YJ; Pathmanapan, Sinthu S; Poon, Raymond R; Ramu, Eyal E; Al-Jazrawe, Mushriq M; Wunder, Jay J; Alman, Benjamin A BA
Publication Date: 2019-04-30

Variant appearance in text: IDH1: R132Q
PubMed Link: 31039139
Variant Present in the following documents:
  • Main text
View BVdb publication page



Computational analysis reveals histotype-dependent molecular profile and actionable mutation effects across cancers.

Genome Medicine
Heim, Daniel D; Montavon, Grégoire G; Hufnagl, Peter P; Müller, Klaus-Robert KR; Klauschen, Frederick F
Publication Date: 2018-11-15

Variant appearance in text: IDH1: R132Q
PubMed Link: 30442178
Variant Present in the following documents:
  • 13073_2018_591_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Impaired hematopoiesis and leukemia development in mice with a conditional knock-in allele of a mutant splicing factor gene U2af1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fei, Dennis Liang DL; Zhen, Tao T; Durham, Benjamin B; Ferrarone, John J; Zhang, Tuo T; Garrett, Lisa L; Yoshimi, Akihide A; Abdel-Wahab, Omar O; Bradley, Robert K RK; Liu, Paul P; Varmus, Harold H
Publication Date: 2018-10-30

Variant appearance in text: IDH1: R132Q
PubMed Link: 30322915
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inhibitor potency varies widely among tumor-relevant human isocitrate dehydrogenase 1 mutants.

The Biochemical Journal
Avellaneda Matteo, Diego D; Wells, Grace A GA; Luna, Lucas A LA; Grunseth, Adam J AJ; Zagnitko, Olga O; Scott, David A DA; Hoang, An A; Luthra, Amit A; Swairjo, Manal A MA; Schiffer, Jamie M JM; Sohl, Christal D CD
Publication Date: 2018-10-22

Variant appearance in text: IDH1: R132Q
PubMed Link: 30249606
Variant Present in the following documents:
  • Main text
View BVdb publication page



IDH1 Arg-132 mutant promotes tumor formation through down-regulating p53.

The Journal Of Biological Chemistry
Jiang, Bin B; Zhao, Wentao W; Shi, Minggang M; Zhang, Jia J; Chen, Ai A; Ma, Huanhuan H; Suleman, Muhammad M; Lin, Furong F; Zhou, Lin L; Wang, Jinyang J; Zhang, Yan Y; Liu, Mengjue M; Wen, Shixiong S; Ouyang, Cong C; Wang, Huihui H; Huang, Xiumin X; Zhou, Huamin H; Li, Qinxi Q
Publication Date: 2018-06-22

Variant appearance in text: IDH1: R132Q
PubMed Link: 29743236
Variant Present in the following documents:
  • Main text
View BVdb publication page



Isocitrate dehydrogenase 1 mutation subtypes at site 132 and their translational potential in glioma.

Cns Oncology
Lu, Victor M VM; McDonald, Kerrie L KL
Publication Date: 2018-01

Variant appearance in text: IDH1: R132Q
PubMed Link: 29303363
Variant Present in the following documents:
  • Main text
  • cns-07-41.pdf
View BVdb publication page



Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference.

Connective Tissue Research
Phan, Anne Q AQ; Pacifici, Maurizio M; Esko, Jeffrey D JD
Publication Date: 2018-01

Variant appearance in text: IDH1: R132Q
PubMed Link: 29099240
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular synergy underlies the co-occurrence patterns and phenotype of NPM1-mutant acute myeloid leukemia.

Blood
Dovey, Oliver M OM; Cooper, Jonathan L JL; Mupo, Annalisa A; Grove, Carolyn S CS; Lynn, Claire C; Conte, Nathalie N; Andrews, Robert M RM; Pacharne, Suruchi S; Tzelepis, Konstantinos K; Vijayabaskar, M S MS; Green, Paul P; Rad, Roland R; Arends, Mark M; Wright, Penny P; Yusa, Kosuke K; Bradley, Allan A; Varela, Ignacio I; Vassiliou, George S GS
Publication Date: 2017-10-26

Variant appearance in text: IDH1: R132Q
PubMed Link: 28835438
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular mechanisms of isocitrate dehydrogenase 1 (IDH1) mutations identified in tumors: The role of size and hydrophobicity at residue 132 on catalytic efficiency.

The Journal Of Biological Chemistry
Avellaneda Matteo, Diego D; Grunseth, Adam J AJ; Gonzalez, Eric R ER; Anselmo, Stacy L SL; Kennedy, Madison A MA; Moman, Precious P; Scott, David A DA; Hoang, An A; Sohl, Christal D CD
Publication Date: 2017-05-12

Variant appearance in text: IDH1: R132Q
PubMed Link: 28330869
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutant IDH1 Downregulates ATM and Alters DNA Repair and Sensitivity to DNA Damage Independent of TET2.

Cancer Cell
Inoue, Satoshi S; Li, Wanda Y WY; Tseng, Alan A; Beerman, Isabel I; Elia, Andrew J AJ; Bendall, Sean C SC; Lemonnier, François F; Kron, Ken J KJ; Cescon, David W DW; Hao, Zhenyue Z; Lind, Evan F EF; Takayama, Naoya N; Planello, Aline C AC; Shen, Shu Yi SY; Shih, Alan H AH; Larsen, Dana M DM; Li, Qinxi Q; Snow, Bryan E BE; Wakeham, Andrew A; Haight, Jillian J; Gorrini, Chiara C; Bassi, Christian C; Thu, Kelsie L KL; Murakami, Kiichi K; Elford, Alisha R AR; Ueda, Takeshi T; Straley, Kimberly K; Yen, Katharine E KE; Melino, Gerry G; Cimmino, Luisa L; Aifantis, Iannis I; Levine, Ross L RL; De Carvalho, Daniel D DD; Lupien, Mathieu M; Rossi, Derrick J DJ; Nolan, Garry P GP; Cairns, Rob A RA; Mak, Tak W TW
Publication Date: 2016-08-08

Variant appearance in text: IDH1: R132Q
PubMed Link: 27424808
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics and Epigenetics of Glioblastoma: Applications and Overall Incidence of IDH1 Mutation.

Frontiers In Oncology
Liu, Aizhen A; Hou, Chunfeng C; Chen, Hongfang H; Zong, Xuan X; Zong, Peijun P
Publication Date: 2016

Variant appearance in text: IDH1: R132Q
PubMed Link: 26858939
Variant Present in the following documents:
  • Main text
  • fonc-06-00016.pdf
View BVdb publication page



Mutant IDH is sufficient to initiate enchondromatosis in mice.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hirata, Makoto M; Sasaki, Masato M; Cairns, Rob A RA; Inoue, Satoshi S; Puviindran, Vijitha V; Li, Wanda Y WY; Snow, Bryan E BE; Jones, Lisa D LD; Wei, Qingxia Q; Sato, Shingo S; Tang, Yuning J YJ; Nadesan, Puviindran P; Rockel, Jason J; Whetstone, Heather H; Poon, Raymond R; Weng, Angela A; Gross, Stefan S; Straley, Kimberly K; Gliser, Camelia C; Xu, Yingxia Y; Wunder, Jay J; Mak, Tak W TW; Alman, Benjamin A BA
Publication Date: 2015-03-03

Variant appearance in text: IDH1: R132Q
PubMed Link: 25730874
Variant Present in the following documents:
  • Main text
View BVdb publication page



New developments in the pathogenesis and therapeutic targeting of the IDH1 mutation in glioma.

International Journal Of Medical Sciences
Dimitrov, Lilia L; Hong, Christopher S CS; Yang, Chunzhang C; Zhuang, Zhengping Z; Heiss, John D JD
Publication Date: 2015

Variant appearance in text: IDH1: R132Q
PubMed Link: 25678837
Variant Present in the following documents:
  • Main text
  • ijmsv12p0201.pdf
View BVdb publication page



Isocitrate dehydrogenase 2 mutation is a frequent event in osteosarcoma detected by a multi-specific monoclonal antibody MsMab-1.

Cancer Medicine
Liu, Xing X; Kato, Yukinari Y; Kaneko, Mika Kato MK; Sugawara, Masato M; Ogasawara, Satoshi S; Tsujimoto, Yuta Y; Naganuma, Yasushi Y; Yamakawa, Mitsunori M; Tsuchiya, Takashi T; Takagi, Michiaki M
Publication Date: 2013-12

Variant appearance in text: IDH1: R132Q
PubMed Link: 24403254
Variant Present in the following documents:
  • Main text
  • cam40002-0803.pdf
View BVdb publication page