IDH1 c.395G>C ;(p.R132P)

Variant ID: 2-209113112-C-G

NM_005896.2(IDH1):c.395G>C;(p.R132P)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


The regulatory mechanisms and inhibitors of isocitrate dehydrogenase 1 in cancer.

Acta Pharmaceutica Sinica. B
Liu, Yang Y; Xu, Wei W; Li, Mingxue M; Yang, Yueying Y; Sun, Dejuan D; Chen, Lidian L; Li, Hua H; Chen, Lixia L
Publication Date: 2023-04

Variant appearance in text: IDH1: R132P
PubMed Link: 37139412
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: IDH1: 395G>C; Arg132Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



SNPMap-An integrated visual SNP interpretation tool.

Frontiers In Genetics
Liu, Miaosen M; Yang, Jian J; Duan, Huilong H; Yu, Lan L; Wu, Dingwen D; Li, Haomin H
Publication Date: 2022

Variant appearance in text: rs121913500
PubMed Link: 36061173
Variant Present in the following documents:
  • Main text
  • fgene-13-985500.pdf
View BVdb publication page



Glioma 2021 WHO Classification: The Superiority of NGS Over IHC in Routine Diagnostics.

Molecular Diagnosis & Therapy
Śledzińska, Paulina P; Bebyn, Marek M; Szczerba, Ewelina E; Furtak, Jacek J; Harat, Maciej M; Olszewska, Natalia N; Kamińska, Katarzyna K; Kowalewski, Janusz J; Lewandowska, Marzena A MA
Publication Date: 2022-11

Variant appearance in text: IDH1: 395G>C
PubMed Link: 36053463
Variant Present in the following documents:
  • Main text
  • 40291_2022_Article_612.pdf
View BVdb publication page



A Targeted Next-Generation Sequencing Panel to Genotype Gliomas.

Life (Basel, Switzerland)
Guarnaccia, Maria M; Guarnaccia, Laura L; La Cognata, Valentina V; Navone, Stefania Elena SE; Campanella, Rolando R; Ampollini, Antonella A; Locatelli, Marco M; Miozzo, Monica M; Marfia, Giovanni G; Cavallaro, Sebastiano S
Publication Date: 2022-06-24

Variant appearance in text: IDH1: 395G>C; R132P
PubMed Link: 35888045
Variant Present in the following documents:
  • Main text
  • life-12-00956.pdf
View BVdb publication page



Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.

World Journal Of Surgical Oncology
Lv, Haiyan H; Jiang, Hantao H; Zhang, Minge M; Luo, Huarong H; Hong, Zhenghua Z; Yang, Hai H; Xu, Weiming W; Shen, Bo B; Zhang, Wei W; Qiu, Hao H; Zhu, Rangteng R
Publication Date: 2022-06-29

Variant appearance in text: IDH1: 395G>C; Arg132Pro
PubMed Link: 35765075
Variant Present in the following documents:
  • Main text
  • 12957_2022_Article_2686.pdf
View BVdb publication page



Mutational landscape of circulating tumor DNA identifies distinct molecular features associated with therapeutic response in patients with metastatic colorectal cancer.

Therapeutic Advances In Medical Oncology
Shi, Min M; Yuan, Hong H; Ji, Jun J; Zhang, Shouwei S; Li, Qingyuan Q; Chen, Yawei Y; Gong, Xiaoli X; Zhu, Zhenggang Z; Zhang, Jun J
Publication Date: 2022

Variant appearance in text: rs121913500
PubMed Link: 35096147
Variant Present in the following documents:
  • sj-xls-4-tam-10.1177_17588359211070643.xls, sheet 1
View BVdb publication page



Prognostic and Predictive Biomarkers in Gliomas.

International Journal Of Molecular Sciences
Śledzińska, Paulina P; Bebyn, Marek G MG; Furtak, Jacek J; Kowalewski, Janusz J; Lewandowska, Marzena A MA
Publication Date: 2021-09-26

Variant appearance in text: IDH1: 395G>C; R132P
PubMed Link: 34638714
Variant Present in the following documents:
  • Main text
  • ijms-22-10373.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: rs121913500
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



Best practices for variant calling in clinical sequencing.

Genome Medicine
Koboldt, Daniel C DC
Publication Date: 2020-10-26

Variant appearance in text: rs121913500
PubMed Link: 33106175
Variant Present in the following documents:
  • Main text
  • 13073_2020_Article_791.pdf
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: rs121913500
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Role of Genetic Variations in the Hepatic Handling of Drugs.

International Journal Of Molecular Sciences
Marin, Jose J G JJG; Serrano, Maria A MA; Monte, Maria J MJ; Sanchez-Martin, Anabel A; Temprano, Alvaro G AG; Briz, Oscar O; Romero, Marta R MR
Publication Date: 2020-04-20

Variant appearance in text: rs121913500
PubMed Link: 32326111
Variant Present in the following documents:
  • Main text
  • ijms-21-02884.pdf
View BVdb publication page



From astrocytoma to glioblastoma: a clonal evolution study.

Febs Open Bio
Yang, Fuhua F; Zou, Yunding Y; Gong, Qiang Q; Chen, Jieping J; Li, Wei-Dong WD; Huang, Qilin Q
Publication Date: 2020-05

Variant appearance in text: rs121913500
PubMed Link: 32069381
Variant Present in the following documents:
  • Main text
  • FEB4-10-744.pdf
View BVdb publication page



Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Scientific Reports
Lin, Peng-Chan PC; Yeh, Yu-Min YM; Wu, Pei-Ying PY; Hsu, Keng-Fu KF; Chang, Jang-Yang JY; Shen, Meng-Ru MR
Publication Date: 2019-03-08

Variant appearance in text: IDH1: 395G>C; Arg132Pro
PubMed Link: 30850667
Variant Present in the following documents:
  • 41598_2019_40571_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: R132P
PubMed Link: 29303363
Variant Present in the following documents:
  • Main text
  • cns-07-41.pdf
View BVdb publication page



Prevalence and detection of low-allele-fraction variants in clinical cancer samples.

Nature Communications
Shin, Hyun-Tae HT; Choi, Yoon-La YL; Yun, Jae Won JW; Kim, Nayoung K D NKD; Kim, Sook-Young SY; Jeon, Hyo Jeong HJ; Nam, Jae-Yong JY; Lee, Chung C; Ryu, Daeun D; Kim, Sang Cheol SC; Park, Kyunghee K; Lee, Eunjin E; Bae, Joon Seol JS; Son, Dae Soon DS; Joung, Je-Gun JG; Lee, Jeeyun J; Kim, Seung Tae ST; Ahn, Myung-Ju MJ; Lee, Se-Hoon SH; Ahn, Jin Seok JS; Lee, Woo Yong WY; Oh, Bo Young BY; Park, Yeon Hee YH; Lee, Jeong Eon JE; Lee, Kwang Hyuk KH; Kim, Hee Cheol HC; Kim, Kyoung-Mee KM; Im, Young-Hyuck YH; Park, Keunchil K; Park, Peter J PJ; Park, Woong-Yang WY
Publication Date: 2017-11-09

Variant appearance in text: IDH1: R132P
PubMed Link: 29123093
Variant Present in the following documents:
  • 41467_2017_1470_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



A novel approach for data integration and disease subtyping.

Genome Research
Nguyen, Tin T; Tagett, Rebecca R; Diaz, Diana D; Draghici, Sorin S
Publication Date: 2017-12

Variant appearance in text: rs121913500
PubMed Link: 29066617
Variant Present in the following documents:
  • Main text
View BVdb publication page



The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences.

Oncotarget
Divisato, Giuseppina G; Scotto di Carlo, Federica F; Pazzaglia, Laura L; Rizzo, Riccardo R; Coviello, Domenico A DA; Benassi, Maria Serena MS; Picci, Piero P; Esposito, Teresa T; Gianfrancesco, Fernando F
Publication Date: 2017-09-08

Variant appearance in text: IDH1: Arg132Pro
PubMed Link: 28968976
Variant Present in the following documents:
  • Main text
  • oncotarget-08-63121.pdf
View BVdb publication page



High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.

Experimental & Molecular Medicine
Cho, Sung-Yup SY; Park, Changho C; Na, Deukchae D; Han, Jee Yun JY; Lee, Jieun J; Park, Ok-Kyoung OK; Zhang, Chengsheng C; Sung, Chang Ohk CO; Moon, Hyo Eun HE; Kim, Yona Y; Kim, Jeong Hoon JH; Kim, Jong Jae JJ; Khang, Shin Kwang SK; Nam, Do-Hyun DH; Choi, Jung Won JW; Suh, Yeon-Lim YL; Kim, Dong Gyu DG; Park, Sung Hye SH; Youn, Hyewon H; Yun, Kyuson K; Kim, Jong-Il JI; Lee, Charles C; Paek, Sun Ha SH; Park, Hansoo H
Publication Date: 2017-04-14

Variant appearance in text: rs121913500
PubMed Link: 28408749
Variant Present in the following documents:
  • emm20179x1.xlsx, sheet 4
View BVdb publication page



Epigenetic silencing of XAF1 in high-grade gliomas is associated with IDH1 status and improved clinical outcome.

Oncotarget
Reich, Thomas R TR; Switzeny, Olivier J OJ; Renovanz, Mirjam M; Sommer, Clemens C; Kaina, Bernd B; Christmann, Markus M; Tomicic, Maja T MT
Publication Date: 2017-02-28

Variant appearance in text: IDH1: R132P
PubMed Link: 28122345
Variant Present in the following documents:
  • Main text
  • oncotarget-08-15071.pdf
View BVdb publication page



Evidence for L1-associated DNA rearrangements and negligible L1 retrotransposition in glioblastoma multiforme.

Mobile Dna
Carreira, Patricia E PE; Ewing, Adam D AD; Li, Guibo G; Schauer, Stephanie N SN; Upton, Kyle R KR; Fagg, Allister C AC; Morell, Santiago S; Kindlova, Michaela M; Gerdes, Patricia P; Richardson, Sandra R SR; Li, Bo B; Gerhardt, Daniel J DJ; Wang, Jun J; Brennan, Paul M PM; Faulkner, Geoffrey J GJ
Publication Date: 2016

Variant appearance in text: rs121913500
PubMed Link: 27843499
Variant Present in the following documents:
  • 13100_2016_76_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Valganciclovir and bevacizumab for recurrent glioblastoma: A single-institution experience.

Molecular And Clinical Oncology
Peng, Chengwei C; Wang, Jialing J; Tanksley, Jarred P JP; Mobley, Bret C BC; Ayers, Gregory D GD; Moots, Paul L PL; Clark, Stephen W SW
Publication Date: 2016-02

Variant appearance in text: IDH1: R132P
PubMed Link: 26893852
Variant Present in the following documents:
  • Main text
View BVdb publication page



IDH mutation, 1p19q codeletion and ATRX loss in WHO grade II gliomas.

Oncotarget
Leeper, Heather E HE; Caron, Alissa A AA; Decker, Paul A PA; Jenkins, Robert B RB; Lachance, Daniel H DH; Giannini, Caterina C
Publication Date: 2015-10-06

Variant appearance in text: IDH1: R132P
PubMed Link: 26210286
Variant Present in the following documents:
  • Main text
  • oncotarget-06-30295.pdf
View BVdb publication page



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: R132P
PubMed Link: 24403254
Variant Present in the following documents:
  • Main text
  • cam40002-0803.pdf
View BVdb publication page



What do we know about IDH1/2 mutations so far, and how do we use it?

Acta Neuropathologica
Horbinski, Craig C
Publication Date: 2013-05

Variant appearance in text: IDH1: R132P
PubMed Link: 23512379
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: R132P
PubMed Link: 23071358
Variant Present in the following documents:
  • Main text
View BVdb publication page



IDH mutations in human glioma.

Neurosurgery Clinics Of North America
Kim, Won W; Liau, Linda M LM
Publication Date: 2012-07

Variant appearance in text: IDH1: R132P
PubMed Link: 22748659
Variant Present in the following documents:
  • Main text
View BVdb publication page