IDH1 c.315C>G ;(p.G105=)

Variant ID: 2-209113192-G-C

NM_005896.2(IDH1):c.315C>G;(p.G105=)

This variant was identified in 24 publications

View GRCh38 version.




Publications:


Genomic profiles of Indonesian colorectal cancer patients.

F1000Research
Abdullah, Murdani M; Meilany, Sofy S; Trimarsanto, Hidayat H; Malik, Safarina G SG; Sukartini, Ninik N; Idrus, Firhat F; Nursyirwan, Saskia A SA; Muzellina, Virly N VN; Pribadi, Rabbinu R RR; Utari, Amanda P AP; Maulahela, Hasan H; Syam, Ari F AF
Publication Date: 2022

Variant appearance in text: IDH1: G105G
PubMed Link: 37125020
Variant Present in the following documents:
  • f1000research-11-144370.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: IDH1: G105G
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Selection of Effective Therapies Using Three-Dimensional in vitro Modeling of Chondrosarcoma.

Frontiers In Molecular Biosciences
Palubeckaitė, Ieva I; Venneker, Sanne S; Briaire-de Bruijn, Inge H IH; van den Akker, Brendy E BE; Krol, Augustinus D AD; Gelderblom, Hans H; Bovée, Judith V M G JVMG
Publication Date: 2020

Variant appearance in text: IDH1: G105G
PubMed Link: 33425984
Variant Present in the following documents:
  • Main text
  • fmolb-07-566291.pdf
View BVdb publication page



Acute Radiation Colitis after Preoperative Short-Course Radiotherapy for Rectal Cancer: A Morphological, Immunohistochemical and Genetic Study.

Cancers
Zanelli, Magda M; Ciarrocchi, Alessia A; De Petris, Giovanni G; Zizzo, Maurizio M; Costantini, Massimo M; Bisagni, Alessandra A; Torricelli, Federica F; Nicoli, Davide D; Ramundo, Dafne D; Ricci, Stefano S; Palicelli, Andrea A; Sanguedolce, Francesca F; Ascani, Stefano S; Castro Ruiz, Carolina C; Annessi, Valerio V; Zamponi, Raffaella R; Bortesi, Mara M; Martino, Veronica V; Marchetti, Marialisa M; De Marco, Loredana L
Publication Date: 2020-09-09

Variant appearance in text: IDH1: Gly105Gly
PubMed Link: 32917028
Variant Present in the following documents:
  • cancers-12-02571-s001.pdf
View BVdb publication page



Adamantinomatous Craniopharyngioma in an Adult: A Case Report with NGS Analysis.

International Medical Case Reports Journal
Jastania, Raid A RA; Saeed, Muhammad M; Al-Khalidi, Hisham H; AlQuthami, Khalid K; Nageeti, Tahani H TH; Al-Allaf, Faisal A FA; Valerie, Kristoffer K; Taher, Mohiuddin M MM
Publication Date: 2020

Variant appearance in text: IDH1: Gly105Gly
PubMed Link: 32368160
Variant Present in the following documents:
  • Main text
  • imcrj-13-123.pdf
View BVdb publication page



Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study.

Current Oncology (Toronto, Ont.)
Spence, T T; Stickle, N N; Yu, C C; Chow, H H; Feilotter, H H; Lo, B B; McCready, E E; Sadikovic, B B; Siu, L L LL; Bedard, P L PL; Stockley, T L TL
Publication Date: 2019-12

Variant appearance in text: IDH1: G105G
PubMed Link: 31896942
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dissection of major cancer gene variants in subsets of circulating tumor cells in advanced breast cancer.

Scientific Reports
D'Oronzo, Stella S; Lovero, Domenica D; Palmirotta, Raffaele R; Stucci, Luigia Stefania LS; Tucci, Marco M; Felici, Claudia C; Cascardi, Eliano E; Giardina, Carmela C; Cafforio, Paola P; Silvestris, Franco F
Publication Date: 2019-11-21

Variant appearance in text: IDH1: G105G
PubMed Link: 31754145
Variant Present in the following documents:
  • 41598_2019_53660_MOESM1_ESM.pdf
View BVdb publication page



Detection Of Mutations In The Isocitrate Dehydrogenase Genes (IDH1/IDH2) Using castPCRTM In Patients With AML And Their Clinical Impact In Mexico City.

Oncotargets And Therapy
Olarte, Irma I; García, Anel A; Ramos, Christian C; Arratia, Brenda B; Centeno, Federico F; Paredes, Johanna J; Rozen, Etta E; Kassack, Juan J; Collazo, Juan J; Martínez, Adolfo A
Publication Date: 2019

Variant appearance in text: IDH1: G105G
PubMed Link: 31632056
Variant Present in the following documents:
  • Main text
  • ott-12-8023.pdf
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: IDH1: G105G
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Genetic and transcriptional evolution alters cancer cell line drug response.

Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08

Variant appearance in text: IDH1: G105G
PubMed Link: 30089904
Variant Present in the following documents:
  • NIHMS977514-supplement-Sup_Table_17.xlsx, sheet 1
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: G105G
PubMed Link: 29535392
Variant Present in the following documents:
  • Main text
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: Gly105Gly
PubMed Link: 28748451
Variant Present in the following documents:
  • Main text
View BVdb publication page



IDH1 or -2 mutations do not predict outcome and do not cause loss of 5-hydroxymethylcytosine or altered histone modifications in central chondrosarcomas.

Clinical Sarcoma Research
Cleven, Arjen H G AHG; Suijker, Johnny J; Agrogiannis, Georgios G; Briaire-de Bruijn, Inge H IH; Frizzell, Norma N; Hoekstra, Attje S AS; Wijers-Koster, Pauline M PM; Cleton-Jansen, Anne-Marie AM; Bovée, Judith V M G JVMG
Publication Date: 2017

Variant appearance in text: IDH1: G105G
PubMed Link: 28484589
Variant Present in the following documents:
  • Main text
View BVdb publication page



TET2, ASXL1, IDH1, and IDH2 Single Nucleotide Polymorphisms in Turkish Patients with Chronic Myeloproliferative Neoplasms.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Soyer, Nur N; Tezcanlı Kaymaz, Burçin B; Cömert Özkan, Melda M; Aktan, Çağdaş Ç; Küçükaslan, Ali Şahin AŞ; Şahin, Fahri F; Kosova, Buket B; Saydam, Güray G
Publication Date: 2017-06-05

Variant appearance in text: IDH1: G105G
PubMed Link: 28218607
Variant Present in the following documents:
  • Main text
  • TJH-34-174.pdf
View BVdb publication page



The NAE inhibitor pevonedistat interacts with the HDAC inhibitor belinostat to target AML cells by disrupting the DDR.

Blood
Zhou, Liang L; Chen, Shuang S; Zhang, Yu Y; Kmieciak, Maciej M; Leng, Yun Y; Li, Lihong L; Lin, Hui H; Rizzo, Kathryn A KA; Dumur, Catherine I CI; Ferreira-Gonzalez, Andrea A; Rahmani, Mohamed M; Povirk, Lawrence L; Chalasani, Sri S; Berger, Allison J AJ; Dai, Yun Y; Grant, Steven S
Publication Date: 2016-05-05

Variant appearance in text: IDH1: G105G
PubMed Link: 26851293
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct molecular abnormalities underlie unique clinical features of essential thrombocythemia in children.

Leukemia
Fu, R R; Liu, D D; Cao, Z Z; Zhu, S S; Li, H H; Su, H H; Zhang, L L; Xue, F F; Liu, X X; Zhang, X X; Cheng, T T; Yang, R R; Zhang, L L
Publication Date: 2016-03

Variant appearance in text: IDH1: G105G
PubMed Link: 26118316
Variant Present in the following documents:
  • leu2015167x1.pdf
View BVdb publication page



Mutations in the isocitrate dehydrogenase 2 gene and IDH1 SNP 105C > T have a prognostic value in acute myeloid leukemia.

Biomarker Research
Willander, Kerstin K; Falk, Ingrid Jakobsen IJ; Chaireti, Roza R; Paul, Esbjörn E; Hermansson, Monica M; Gréen, Henrik H; Lotfi, Kourosh K; Söderkvist, Peter P
Publication Date: 2014

Variant appearance in text: IDH1: G105G
PubMed Link: 25324972
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss of TRIM62 expression is an independent adverse prognostic factor in acute myeloid leukemia.

Clinical Lymphoma, Myeloma & Leukemia
Quintás-Cardama, Alfonso A; Zhang, Nianxiang N; Qiu, Yi Hua YH; Post, Sean S; Creighton, Chad J CJ; Cortes, Jorge J; Coombes, Kevin R KR; Kornblau, Steven M SM
Publication Date: 2015-02

Variant appearance in text: IDH1: G105G
PubMed Link: 25248926
Variant Present in the following documents:
  • Main text
View BVdb publication page



IDH1/IDH2 but not TP53 mutations predict prognosis in Bulgarian glioblastoma patients.

Biomed Research International
Stancheva, Gergana G; Goranova, Teodora T; Laleva, Maria M; Kamenova, Margarita M; Mitkova, Atanaska A; Velinov, Nikolay N; Poptodorov, George G; Mitev, Vanio V; Kaneva, Radka R; Gabrovsky, Nikolay N
Publication Date: 2014

Variant appearance in text: IDH1: G105G
PubMed Link: 24868540
Variant Present in the following documents:
  • Main text
  • BMRI2014-654727.pdf
View BVdb publication page



Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients.

Journal Of Hematology & Oncology
Chotirat, Sadudee S; Thongnoppakhun, Wanna W; Promsuwicha, Orathai O; Boonthimat, Chetsada C; Auewarakul, Chirayu U CU
Publication Date: 2012-03-07

Variant appearance in text: IDH1: G105G
PubMed Link: 22397365
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic testing for IDH1 and IDH2 variants in acute myeloid leukemia an algorithmic approach using high-resolution melting curve analysis.

The Journal Of Molecular Diagnostics : Jmd
Patel, Keyur P KP; Barkoh, Bedia A BA; Chen, Zhao Z; Ma, Deqin D; Reddy, Neelima N; Medeiros, L Jeffrey LJ; Luthra, Rajyalakshmi R
Publication Date: 2011-11

Variant appearance in text: IDH1: G105G
PubMed Link: 21889610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular alterations of the IDH1 gene in AML: a Children's Oncology Group and Southwest Oncology Group study.

Leukemia
Ho, P A PA; Alonzo, T A TA; Kopecky, K J KJ; Miller, K L KL; Kuhn, J J; Zeng, R R; Gerbing, R B RB; Raimondi, S C SC; Hirsch, B A BA; Oehler, V V; Hurwitz, C A CA; Franklin, J L JL; Gamis, A S AS; Petersdorf, S H SH; Anderson, J E JE; Reaman, G H GH; Baker, L H LH; Willman, C L CL; Bernstein, I D ID; Radich, J P JP; Appelbaum, F R FR; Stirewalt, D L DL; Meshinchi, S S
Publication Date: 2010-05

Variant appearance in text: IDH1: G105G
PubMed Link: 20376086
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification and functional characterization of isocitrate dehydrogenase 1 (IDH1) mutations in thyroid cancer.

Biochemical And Biophysical Research Communications
Murugan, Avaniyapuram Kannan AK; Bojdani, Ermal E; Xing, Mingzhao M
Publication Date: 2010-03-12

Variant appearance in text: IDH1: G105G
PubMed Link: 20171178
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations of the metabolic genes IDH1, IDH2, and SDHAF2 are not major determinants of the pseudohypoxic phenotype of sporadic pheochromocytomas and paragangliomas.

The Journal Of Clinical Endocrinology And Metabolism
Yao, Li L; Barontini, Marta M; Niederle, Bruno B; Jech, Marion M; Pfragner, Roswitha R; Dahia, Patricia L M PL
Publication Date: 2010-03

Variant appearance in text: IDH1: G105G
PubMed Link: 20130071
Variant Present in the following documents:
  • Main text
View BVdb publication page