IDH1 c.401C>A ;(p.A134D)

Variant ID: 2-209113106-G-T

NM_005896.2(IDH1):c.401C>A;(p.A134D)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics
Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R
Publication Date: 2022-04-25

Variant appearance in text: IDH1: 401C>A
PubMed Link: 35468810
Variant Present in the following documents:
  • 12920_2022_1235_MOESM2_ESM.xlsx, sheet 1
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: A134D
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: IDH1: 401C>A; A134D
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
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: A134D
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: IDH1: 401C>A; Ala134Asp
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 3
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: IDH1: 401C>A; Ala134Asp
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s3.xlsx, sheet 9
  • bty518_supplementary_data_s1.xlsx, sheet 9
View BVdb publication page



The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell
Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H
Publication Date: 2018-02

Variant appearance in text: IDH1: Ala134Asp
PubMed Link: 28748451
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_451.pdf
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: A134D
PubMed Link: 28330869
Variant Present in the following documents:
  • Main text
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: IDH1: A134D
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 1
View BVdb publication page



Induction of sarcomas by mutant IDH2.

Genes & Development
Lu, Chao C; Venneti, Sriram S; Akalin, Altuna A; Fang, Fang F; Ward, Patrick S PS; Dematteo, Raymond G RG; Intlekofer, Andrew M AM; Chen, Chong C; Ye, Jiangbin J; Hameed, Meera M; Nafa, Khedoudja K; Agaram, Narasimhan P NP; Cross, Justin R JR; Khanin, Raya R; Mason, Christopher E CE; Healey, John H JH; Lowe, Scott W SW; Schwartz, Gary K GK; Melnick, Ari A; Thompson, Craig B CB
Publication Date: 2013-09-15

Variant appearance in text: IDH1: A134D
PubMed Link: 24065766
Variant Present in the following documents:
  • Main text
  • 1986.pdf
View BVdb publication page



IDH1/2 mutations target a key hallmark of cancer by deregulating cellular metabolism in glioma.

Neuro-Oncology
Zhang, Chunzhi C; Moore, Lynette M LM; Li, Xia X; Yung, W K Alfred WK; Zhang, Wei W
Publication Date: 2013-09

Variant appearance in text: IDH1: A134D
PubMed Link: 23877318
Variant Present in the following documents:
  • Main text
View BVdb publication page



The potential for isocitrate dehydrogenase mutations to produce 2-hydroxyglutarate depends on allele specificity and subcellular compartmentalization.

The Journal Of Biological Chemistry
Ward, Patrick S PS; Lu, Chao C; Cross, Justin R JR; Abdel-Wahab, Omar O; Levine, Ross L RL; Schwartz, Gary K GK; Thompson, Craig B CB
Publication Date: 2013-02-08

Variant appearance in text: IDH1: A134D
PubMed Link: 23264629
Variant Present in the following documents:
  • Main text
View BVdb publication page



IDH1 and IDH2 mutations in tumorigenesis: mechanistic insights and clinical perspectives.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Yang, Hui H; Ye, Dan D; Guan, Kun-Liang KL; Xiong, Yue Y
Publication Date: 2012-10-15

Variant appearance in text: IDH1: A134D
PubMed Link: 23071358
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of additional IDH mutations associated with oncometabolite R(-)-2-hydroxyglutarate production.

Oncogene
Ward, P S PS; Cross, J R JR; Lu, C C; Weigert, O O; Abel-Wahab, O O; Levine, R L RL; Weinstock, D M DM; Sharp, K A KA; Thompson, C B CB
Publication Date: 2012-05-10

Variant appearance in text: IDH1: A134D
PubMed Link: 21996744
Variant Present in the following documents:
  • Main text
View BVdb publication page