IDH1 c.940C>T ;(p.R314C)

Variant ID: 2-209104638-G-A

NM_005896.2(IDH1):c.940C>T;(p.R314C)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Sequence-structure functional implications and molecular simulation of high deleterious nonsynonymous substitutions in IDH1 revealed the mechanism of drug resistance in glioma.

Frontiers In Pharmacology
Suleman, Muhammad M; Umme-I-Hani, Syeda S; Salman, Muhammad M; Aljuaid, Mohammed M; Khan, Abbas A; Iqbal, Arshad A; Hussain, Zahid Z; Ali, Syed Shujait SS; Ali, Liaqat L; Sher, Hassan H; Waheed, Yasir Y; Wei, Dong-Qing DQ
Publication Date: 2022

Variant appearance in text: IDH1: R314C
PubMed Link: 36188571
Variant Present in the following documents:
  • Main text
  • fphar-13-927570.pdf
View BVdb publication page



Revisited Metabolic Control and Reprogramming Cancers by Means of the Warburg Effect in Tumor Cells.

International Journal Of Molecular Sciences
Fukushi, Abekura A; Kim, Hee-Do HD; Chang, Yu-Chan YC; Kim, Cheorl-Ho CH
Publication Date: 2022-09-02

Variant appearance in text: IDH1: R314C
PubMed Link: 36077431
Variant Present in the following documents:
  • ijms-23-10037.pdf
View BVdb publication page



Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal
Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H
Publication Date: 2022-04

Variant appearance in text: IDH1: R314C
PubMed Link: 35550340
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Emerging Role of TCA Cycle-Related Enzymes in Human Diseases.

International Journal Of Molecular Sciences
Kang, Woojin W; Suzuki, Miki M; Saito, Takako T; Miyado, Kenji K
Publication Date: 2021-12-02

Variant appearance in text: IDH1: R314C
PubMed Link: 34884868
Variant Present in the following documents:
  • ijms-22-13057.pdf
View BVdb publication page



Mixed responses to first-line alectinib in non-small cell lung cancer patients with rare ALK gene fusions: A case series and literature review.

Journal Of Cellular And Molecular Medicine
Li, Mengnan M; An, Zhou Z; Tang, Qiusu Q; Ma, Yutong Y; Yan, Junrong J; Chen, Songan S; Wang, Yina Y
Publication Date: 2021-10

Variant appearance in text: IDH1: 940C>T
PubMed Link: 34541785
Variant Present in the following documents:
  • Main text
  • JCMM-25-9476.pdf
View BVdb publication page



Somatic alterations and mutational burden are potential predictive factors for metachronous development of early gastric cancer.

Scientific Reports
Sakuta, Kazuhiro K; Sasaki, Yu Y; Abe, Yasuhiko Y; Sato, Hidenori H; Shoji, Masakuni M; Yaoita, Takao T; Yagi, Makoto M; Mizumoto, Naoko N; Onozato, Yusuke Y; Kon, Takashi T; Koseki, Ayumi A; Sato, Sonoko S; Murakami, Ryoko R; Miyano, Yuki Y; Ueno, Yoshiyuki Y
Publication Date: 2020-12-16

Variant appearance in text: IDH1: R314C; rs1040177874
PubMed Link: 33328548
Variant Present in the following documents:
  • 41598_2020_79195_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Kinins in Glioblastoma Microenvironment.

Cancer Microenvironment : Official Journal Of The International Cancer Microenvironment Society
Oliveira, Mona N MN; Breznik, Barbara B; Pillat, Micheli M MM; Pereira, Ricardo L RL; Ulrich, Henning H; Lah, Tamara T TT
Publication Date: 2019-12

Variant appearance in text: IDH1: R314C
PubMed Link: 31420805
Variant Present in the following documents:
  • Main text
View BVdb publication page



Isocitrate dehydrogenase 1-mutated cancers are sensitive to the green tea polyphenol epigallocatechin-3-gallate.

Cancer & Metabolism
Peeters, Tom H TH; Lenting, Krissie K; Breukels, Vincent V; van Lith, Sanne A M SAM; van den Heuvel, Corina N A M CNAM; Molenaar, Remco R; van Rooij, Arno A; Wevers, Ron R; Span, Paul N PN; Heerschap, Arend A; Leenders, William P J WPJ
Publication Date: 2019

Variant appearance in text: IDH1: R314C
PubMed Link: 31139406
Variant Present in the following documents:
  • 40170_2019_Article_198.pdf
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: IDH1: 940C>T; R314C
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



RGS7 is recurrently mutated in melanoma and promotes migration and invasion of human cancer cells.

Scientific Reports
Qutob, Nouar N; Masuho, Ikuo I; Alon, Michal M; Emmanuel, Rafi R; Cohen, Isadora I; Di Pizio, Antonella A; Madore, Jason J; Elkahloun, Abdel A; Ziv, Tamar T; Levy, Ronen R; Gartner, Jared J JJ; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Greenberg, Polina P; Brodezki, Alexandra A; Rosenberg, Steven A SA; Kosloff, Mickey M; Hayward, Nicholas K NK; Admon, Arie A; Niv, Masha Y MY; Scolyer, Richard A RA; Martemyanov, Kirill A KA; Samuels, Yardena Y
Publication Date: 2018-01-12

Variant appearance in text: IDH1: R314C
PubMed Link: 29330521
Variant Present in the following documents:
  • 41598_2017_18851_MOESM3_ESM.xlsx, sheet 1
  • 41598_2017_18851_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Profiling of the metabolic transcriptome via single molecule molecular inversion probes.

Scientific Reports
de Bitter, Tessa T; van de Water, Carlijn C; van den Heuvel, Corina C; Zeelen, Carolien C; Eijkelenboom, Astrid A; Tops, Bastiaan B; Oosterwijk, Egbert E; Kolev, Dimitar D; Mulders, Peter P; Ter Laan, Mark M; van Lith, Sanne S; Leenders, William W
Publication Date: 2017-09-12

Variant appearance in text: IDH1: R314C
PubMed Link: 28900252
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_11035.pdf
View BVdb publication page



Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma.

Scientific Reports
van Lith, Sanne A M SA; Navis, Anna C AC; Lenting, Krissie K; Verrijp, Kiek K; Schepens, Jan T G JT; Hendriks, Wiljan J A J WJ; Schubert, Nil A NA; Venselaar, Hanka H; Wevers, Ron A RA; van Rooij, Arno A; Wesseling, Pieter P; Molenaar, Remco J RJ; van Noorden, Cornelis J F CJ; Pusch, Stefan S; Tops, Bastiaan B; Leenders, William P J WP
Publication Date: 2016-07-27

Variant appearance in text: IDH1: R314C
PubMed Link: 27460417
Variant Present in the following documents:
  • Main text
  • srep30486-s1.pdf
  • srep30486.pdf
View BVdb publication page