IDH1 c.59G>A ;(p.R20Q)

Variant ID: 2-209116217-C-T

NM_005896.2(IDH1):c.59G>A;(p.R20Q)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Retrospective analysis of somatic mutations and clonal hematopoiesis in astronauts.

Communications Biology
Brojakowska, Agnieszka A; Kour, Anupreet A; Thel, Mark Charles MC; Park, Eunbee E; Bisserier, Malik M; Garikipati, Venkata Naga Srikanth VNS; Hadri, Lahouaria L; Mills, Paul J PJ; Walsh, Kenneth K; Goukassian, David A DA
Publication Date: 2022-08-17

Variant appearance in text: IDH1: 59G>A; Arg20Gln
PubMed Link: 35978153
Variant Present in the following documents:
  • 42003_2022_3777_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: IDH1: 59G>A; R20Q
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



Landscape of IDH1/2 mutations in Chinese patients with solid tumors: A pan-cancer analysis.

Molecular Genetics & Genomic Medicine
Shen, Dong D; Zhang, Junling J; Yuan, Kai K; Zhao, Jing J; Zhao, Zhengyi Z; Cui, Longgang L; Zhang, Yuzi Y; Wang, Guoqiang G; Cai, Shangli S; Bai, Yuezong Y; Li, Wei W; Huang, Xiang X
Publication Date: 2021-08

Variant appearance in text: IDH1: R20Q
PubMed Link: 34145795
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1697.pdf
View BVdb publication page



Landscape of IDH1/2 mutations in Chinese patients with solid tumors: A pan-cancer analysis.

Molecular Genetics & Genomic Medicine
Shen, Dong D; Zhang, Junling J; Yuan, Kai K; Zhao, Jing J; Zhao, Zhengyi Z; Cui, Longgang L; Zhang, Yuzi Y; Wang, Guoqiang G; Cai, Shangli S; Bai, Yuezong Y; Li, Wei W; Huang, Xiang X
Publication Date: 2021-08

Variant appearance in text: IDH1: R20Q
PubMed Link: 34145795
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1697.pdf
View BVdb publication page



Integration Analysis of JAK2 or RUNX1 Mutation With Bone Marrow Blast Can Improve Risk Stratification in the Patients With Lower Risk Myelodysplastic Syndrome.

Frontiers In Oncology
Fang, Ying Y; Guo, Juan J; Wu, Dong D; Wu, Ling-Yun LY; Song, Lu-Xi LX; Zhang, Zheng Z; Zhao, You-Shan YS; Chang, Chun-Kang CK
Publication Date: 2020

Variant appearance in text: IDH1: R20Q
PubMed Link: 33520721
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.

Molecular Genetics & Genomic Medicine
Chen, Zhanhong Z; Sun, Tian T; Yang, Ziyan Z; Zheng, Yabing Y; Yu, Ruoying R; Wu, Xue X; Yan, Junrong J; Shao, Yang W YW; Shao, Xiying X; Cao, Wenming W; Wang, Xiaojia X
Publication Date: 2020-02

Variant appearance in text: IDH1: 59G>A; R20Q
PubMed Link: 31867841
Variant Present in the following documents:
  • MGG3-8-e1079-s004.xlsx, sheet 1
View BVdb publication page



Epigenetic Enzyme Mutations: Role in Tumorigenesis and Molecular Inhibitors.

Frontiers In Oncology
Han, Mei M; Jia, Lina L; Lv, Wencai W; Wang, Lihui L; Cui, Wei W
Publication Date: 2019

Variant appearance in text: IDH1: R20Q
PubMed Link: 30984620
Variant Present in the following documents:
  • Main text
  • fonc-09-00194.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: IDH1: 59G>A; R20Q
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: IDH1: R20Q
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 1
View BVdb publication page