IDH1 c.399T>G ;(p.H133Q)

Variant ID: 2-209113108-A-C

NM_005896.2(IDH1):c.399T>G;(p.H133Q)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Molecular Alterations in Thyroid Cancer: From Bench to Clinical Practice.

Genes
TirrĂ², Elena E; Martorana, Federica F; Romano, Chiara C; Vitale, Silvia Rita SR; Motta, Gianmarco G; Di Gregorio, Sandra S; Massimino, Michele M; Pennisi, Maria Stella MS; Stella, Stefania S; Puma, Adriana A; Gianì, Fiorenza F; Russo, Marco M; Manzella, Livia L; Vigneri, Paolo P
Publication Date: 2019-09-13

Variant appearance in text: IDH1: H133Q
PubMed Link: 31540307
Variant Present in the following documents:
  • Main text
  • genes-10-00709.pdf
View BVdb publication page



Prevalence of the single-nucleotide polymorphism rs11554137 (IDH1105GGT) in brain tumors of a cohort of Italian patients.

Scientific Reports
Acquaviva, Giorgia G; Visani, Michela M; de Biase, Dario D; Marucci, Gianluca G; Franceschi, Enrico E; Tosoni, Alicia A; Brandes, Alba A AA; Rhoden, Kerry J KJ; Pession, Annalisa A; Tallini, Giovanni G
Publication Date: 2018-03-13

Variant appearance in text: IDH1: H133Q
PubMed Link: 29535392
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_22222.pdf
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: His133Gln
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: H133Q
PubMed Link: 28330869
Variant Present in the following documents:
  • Main text
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: H133Q
PubMed Link: 23877318
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: H133Q
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: H133Q
PubMed Link: 21996744
Variant Present in the following documents:
  • Main text
View BVdb publication page