IDH1 c.394_396delinsAAG ;(p.R132K)

Variant ID: 2-209113111-ACG-CTT

NM_005896.2(IDH1):c.394_396delinsAAG;(p.R132K)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia.

Nature Communications
Bassal, Mahmoud A MA; Samaraweera, Saumya E SE; Lim, Kelly K; Benard, Brooks A BA; Bailey, Sheree S; Kaur, Satinder S; Leo, Paul P; Toubia, John J; Thompson-Peach, Chloe C; Nguyen, Tran T; Maung, Kyaw Ze Ya KZY; Casolari, Debora A DA; Iarossi, Diana G DG; Pagani, Ilaria S IS; Powell, Jason J; Pitson, Stuart S; Natera, Siria S; Roessner, Ute U; Lewis, Ian D ID; Brown, Anna L AL; Tenen, Daniel G DG; Robinson, Nirmal N; Ross, David M DM; Majeti, Ravindra R; Gonda, Thomas J TJ; Thomas, Daniel D; D'Andrea, Richard J RJ
Publication Date: 2022-05-12

Variant appearance in text: IDH1: R132K
PubMed Link: 35551192
Variant Present in the following documents:
  • 41467_2022_30223_MOESM8_ESM.xlsx, sheet 1
  • 41467_2022_30223_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



In vivo anti-tumor effect of PARP inhibition in IDH1/2 mutant MDS/AML resistant to targeted inhibitors of mutant IDH1/2.

Leukemia
Gbyli, Rana R; Song, Yuanbin Y; Liu, Wei W; Gao, Yimeng Y; Biancon, Giulia G; Chandhok, Namrata S NS; Wang, Xiaman X; Fu, Xiaoying X; Patel, Amisha A; Sundaram, Ranjini R; Tebaldi, Toma T; Mamillapalli, Padmavathi P; Zeidan, Amer M AM; Flavell, Richard A RA; Prebet, Thomas T; Bindra, Ranjit S RS; Halene, Stephanie S
Publication Date: 2022-05

Variant appearance in text: IDH1: R132K
PubMed Link: 35273342
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular biomarkers and integrated pathological diagnosis in the reclassification of gliomas.

Molecular And Clinical Oncology
Ruiz, María Fernanda MF; Gennaro, María Verónica MV; Bastone, Laura C LC; Godoy, Alicia R AR; Torruella, Mónica M; Perez, Germán R GR
Publication Date: 2021-08

Variant appearance in text: IDH1: R132K
PubMed Link: 34141429
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: R132K
PubMed Link: 29303363
Variant Present in the following documents:
  • Main text
  • cns-07-41.pdf
View BVdb publication page



Liver Cancer: Molecular Characterization, Clonal Evolution and Cancer Stem Cells.

Cancers
Castelli, Germana G; Pelosi, Elvira E; Testa, Ugo U
Publication Date: 2017-09-20

Variant appearance in text: IDH1: R132K
PubMed Link: 28930164
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: R132K
PubMed Link: 28330869
Variant Present in the following documents:
  • Main text
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: R132K
PubMed Link: 24403254
Variant Present in the following documents:
  • Main text
  • cam40002-0803.pdf
View BVdb publication page



Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations.

The Journal Of Experimental Medicine
Gross, Stefan S; Cairns, Rob A RA; Minden, Mark D MD; Driggers, Edward M EM; Bittinger, Mark A MA; Jang, Hyun Gyung HG; Sasaki, Masato M; Jin, Shengfang S; Schenkein, David P DP; Su, Shinsan M SM; Dang, Lenny L; Fantin, Valeria R VR; Mak, Tak W TW
Publication Date: 2010-02-15

Variant appearance in text: IDH1: R132K
PubMed Link: 20142433
Variant Present in the following documents:
  • Main text
  • JEM_20092506.pdf
View BVdb publication page