IDH1 c.388A>G ;(p.I130V)

Variant ID: 2-209113119-T-C

NM_005896.2(IDH1):c.388A>G;(p.I130V)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

Frontiers In Oncology
He, Ping P; Liu, Jie J; Xu, Qingyuan Q; Ma, Huaijun H; Niu, Beifang B; Huang, Gang G; Wu, Wei W
Publication Date: 2023

Variant appearance in text: IDH1: 388A>G; I130V; rs762479277
PubMed Link: 36910641
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 8
View BVdb publication page



Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.

Frontiers In Oncology
Andrikopoulou, Angeliki A; Zografos, Eleni E; Apostolidou, Kleoniki K; Kyriazoglou, Anastasios A; Papatheodoridi, Alksistis-Maria AM; Kaparelou, Maria M; Koutsoukos, Konstantinos K; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F
Publication Date: 2022

Variant appearance in text: IDH1: 388A>G; Ile130Val; rs762479277
PubMed Link: 36531003
Variant Present in the following documents:
  • Main text
  • fonc-12-1030786.pdf
View BVdb publication page



Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Cancer Medicine
Gan, Meifu M; Zhang, Chen C; Qiu, Liqing L; Wang, Yue Y; Bao, Hua H; Yu, Ruoying R; Liu, Rui R; Wu, Xue X; Shao, Yang Y; Hou, Peifeng P; Fei, Zhenglei Z
Publication Date: 2022-11

Variant appearance in text: IDH1: 388A>G; I130V
PubMed Link: 35586877
Variant Present in the following documents:
  • CAM4-11-4070-s004.xlsx, sheet 1
View BVdb publication page



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: 388A>G
PubMed Link: 35468810
Variant Present in the following documents:
  • 12920_2022_1235_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18

Variant appearance in text: IDH1: 388A>G; I130V; rs762479277
PubMed Link: 34797250
Variant Present in the following documents:
  • ct9-12-e00431-s005.xlsx, sheet 1
  • ct9-12-e00431-s006.xlsx, sheet 1
View BVdb publication page



Clinical and mutational profiles of adult medulloblastoma groups.

Acta Neuropathologica Communications
Wong, Gabriel Chun-Hei GC; Li, Kay Ka-Wai KK; Wang, Wei-Wei WW; Liu, Anthony Pak-Yin AP; Huang, Queenie Junqi QJ; Chan, Aden Ka-Yin AK; Poon, Manix Fung-Man MF; Chung, Nellie Yuk-Fei NY; Wong, Queenie Hoi-Wing QH; Chen, Hong H; Chan, Danny Tat Ming DTM; Liu, Xian-Zhi XZ; Mao, Ying Y; Zhang, Zhen-Yu ZY; Shi, Zhi-Feng ZF; Ng, Ho-Keung HK
Publication Date: 2020-11-10

Variant appearance in text: IDH1: I130V
PubMed Link: 33172502
Variant Present in the following documents:
  • 40478_2020_1066_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: IDH1: I130V
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
Publication Date: 2019-11-19

Variant appearance in text: IDH1: 388A>G; I130V
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences
Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ
Publication Date: 2019

Variant appearance in text: IDH1: Ile130Val
PubMed Link: 31681791
Variant Present in the following documents:
  • Data_Sheet_5.pdf
View BVdb publication page



Validation of the Oncomineā„¢ focus panel for next-generation sequencing of clinical tumour samples.

Virchows Archiv : An International Journal Of Pathology
Williams, Hannah L HL; Walsh, Kathy K; Diamond, Austin A; Oniscu, Anca A; Deans, Zandra C ZC
Publication Date: 2018-10

Variant appearance in text: IDH1: 388A>G; I130V
PubMed Link: 30105577
Variant Present in the following documents:
  • 428_2018_2411_MOESM2_ESM.xlsx, sheet 1
  • 428_2018_2411_MOESM3_ESM.xlsx, sheet 1
  • 428_2018_2411_MOESM1_ESM.xlsx, sheet 4
  • 428_2018_2411_MOESM1_ESM.xlsx, sheet 3
  • 428_2018_2411_MOESM4_ESM.xlsx, sheet 1
  • 428_2018_2411_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: IDH1: I130V
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: IDH1: 388A>G; I130V; rs762479277
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Mobile Genome Express (MGE): A comprehensive automatic genetic analyses pipeline with a mobile device.

Plos One
Yoon, Jun-Hee JH; Kim, Thomas W TW; Mendez, Pedro P; Jablons, David M DM; Kim, Il-Jin IJ
Publication Date: 2017

Variant appearance in text: IDH1: 388A>G; I130V
PubMed Link: 28403238
Variant Present in the following documents:
  • pone.0174696.pdf
View BVdb publication page



The Frequency and clinical significance of IDH1 mutations in Chinese acute myeloid leukemia patients.

Plos One
Guan, Lixun L; Gao, Li L; Wang, Lili L; Li, Meng M; Yin, Yue Y; Yu, Li L; Gao, Chunji C
Publication Date: 2013

Variant appearance in text: IDH1: I130V
PubMed Link: 24376688
Variant Present in the following documents:
  • Main text
  • pone.0083334.pdf
View BVdb publication page