IDH1 c.622T>C ;(p.Y208H)

Variant ID: 2-209108227-A-G

NM_005896.2(IDH1):c.622T>C;(p.Y208H)

This variant was identified in 4 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: Y208H
PubMed Link: 36188571
Variant Present in the following documents:
  • Main text
  • fphar-13-927570.pdf
View BVdb publication page



Novel canine isocitrate dehydrogenase 1 mutation Y208C attenuates dimerization ability.

Oncology Letters
Kawakami, Shota S; Michishita, Masaki M; Sakaue, Motoharu M; Morimatsu, Masami M; Uemura, Mitsuki M; Kashiwagi, Nobuaki N; Maeda, Marika M; Machida, Yukino Y; Azakami, Daigo D; Egusa, Ai S AS; Onozawa, Eri E; Ishioka, Katsumi K; Watanabe, Masami M; Tanaka, Yoshikazu Y; Omi, Toshinori T; Ochiai, Kazuhiko K
Publication Date: 2020-12

Variant appearance in text: IDH1: Y208H; rs587778402
PubMed Link: 33123262
Variant Present in the following documents:
  • Main text
  • ol-20-06-12214.pdf
View BVdb publication page



Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28

Variant appearance in text: IDH1: 622T>C; Tyr208His
PubMed Link: 31133068
Variant Present in the following documents:
  • 13073_2019_644_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: IDH1: Y208H
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page