IDH1 c.394_395delinsGC ;(p.R132A)

Variant ID: 2-209113112-CG-GC

NM_005896.2(IDH1):c.394_395delinsGC;(p.R132A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: R132A
PubMed Link: 29303363
Variant Present in the following documents:
  • Main text
  • cns-07-41.pdf
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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: R132A
PubMed Link: 28330869
Variant Present in the following documents:
  • Main text
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MTSS1 is epigenetically regulated in glioma cells and inhibits glioma cell motility.

Translational Oncology
Luxen, Daniel D; Gielen, Gerrit H GH; Waha, Anke A; Isselstein, Lukas L; Müller, Tim T; Koch, Philipp P; Hammes, Jennifer J; Becker, Albert A; Simon, Matthias M; Wurst, Peter P; Endl, Elmar E; Pietsch, Torsten T; Gessi, Marco M; Waha, Andreas A
Publication Date: 2017-02

Variant appearance in text: IDH1: R132A
PubMed Link: 27988423
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single arginine mutation in two yeast isocitrate dehydrogenases: biochemical characterization and functional implication.

Plos One
Song, Ping P; Wei, Huanhuan H; Cao, Zhengyu Z; Wang, Peng P; Zhu, Guoping G
Publication Date: 2014

Variant appearance in text: IDH1: R132A
PubMed Link: 25502799
Variant Present in the following documents:
  • Main text
  • pone.0115025.pdf
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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: R132A
PubMed Link: 24403254
Variant Present in the following documents:
  • Main text
  • cam40002-0803.pdf
View BVdb publication page