IDH1 c.367G>C ;(p.G123R)

Variant ID: 2-209113140-C-G

NM_005896.2(IDH1):c.367G>C;(p.G123R)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Molecular convergence and transgenic evidence suggest a single origin of laryngeal echolocation in bats.

Iscience
Liu, Zhen Z; Chen, Peng P; Xu, Dong-Ming DM; Qi, Fei-Yan FY; Guo, Yuan-Ting YT; Liu, Qi Q; Bai, Jing J; Zhou, Xin X; Shi, Peng P
Publication Date: 2022-04-15

Variant appearance in text: IDH1: G123R
PubMed Link: 35391832
Variant Present in the following documents:
  • mmc13.xlsx, sheet 1
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: IDH1: G123R
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma Patients.

Journal Of Clinical Medicine
Lee, Seung Woo SW; Lee, Taekyu T; Sul, Hae Jung HJ; Park, Ki Cheol KC; Park, Joonhong J
Publication Date: 2021-05-10

Variant appearance in text: IDH1: 367G>C; Gly123Arg
PubMed Link: 34068652
Variant Present in the following documents:
  • Main text
  • jcm-10-02038.pdf
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: G123R
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: IDH1: G123R
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
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: Gly123Arg
PubMed Link: 31681791
Variant Present in the following documents:
  • Data_Sheet_5.pdf
View BVdb publication page



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

Genes
Tirrò, 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: G123R
PubMed Link: 31540307
Variant Present in the following documents:
  • Main text
  • genes-10-00709.pdf
View BVdb publication page



Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2019-02-08

Variant appearance in text: IDH1: G123R
PubMed Link: 30736836
Variant Present in the following documents:
  • 13058_2019_1102_MOESM2_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: G123R
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
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: G123R
PubMed Link: 29535392
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_22222.pdf
View BVdb publication page



Ciliated muconodular papillary tumor of the lung harboring BRAF V600E mutation and p16INK4a overexpression without proliferative activity may represent an example of oncogene-induced senescence.

Journal Of Thoracic Disease
Kim, Lucia L; Kim, Young Sam YS; Lee, Jin Soo JS; Choi, Suk Jin SJ; Park, In Suh IS; Han, Jee Young JY; Kim, Joon Mee JM; Chu, Young Chae YC
Publication Date: 2017-12

Variant appearance in text: IDH1: G123R
PubMed Link: 29312762
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ciliated muconodular papillary tumors of the lung with KRAS/BRAF/AKT1 mutation.

Diagnostic Pathology
Udo, Emiko E; Furusato, Bungo B; Sakai, Kazuko K; Prentice, Leah M LM; Tanaka, Tomonori T; Kitamura, Yuka Y; Tsuchiya, Tomoshi T; Yamasaki, Naoya N; Nagayasu, Takeshi T; Nishio, Kazuto K; Fukuoka, Junya J
Publication Date: 2017-08-22

Variant appearance in text: IDH1: G123R
PubMed Link: 28830562
Variant Present in the following documents:
  • Main text
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: IDH1: G123R
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
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: G123R
PubMed Link: 23877318
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cancer-associated isocitrate dehydrogenase mutations inactivate NADPH-dependent reductive carboxylation.

The Journal Of Biological Chemistry
Leonardi, Roberta R; Subramanian, Chitra C; Jackowski, Suzanne S; Rock, Charles O CO
Publication Date: 2012-04-27

Variant appearance in text: IDH1: G123R
PubMed Link: 22442146
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: G123R
PubMed Link: 21996744
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: G123R
PubMed Link: 20171178
Variant Present in the following documents:
  • Main text
View BVdb publication page