IDH1 c.416A>T ;(p.Y139F)

Variant ID: 2-209110147-T-A

NM_005896.2(IDH1):c.416A>T;(p.Y139F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: Y139F
PubMed Link: 35550340
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Mutant and Wild-Type Isocitrate Dehydrogenase 1 Share Enhancing Mechanisms Involving Distinct Tyrosine Kinase Cascades in Cancer.

Cancer Discovery
Chen, Dong D; Xia, Siyuan S; Wang, Mei M; Lin, Ruiting R; Li, Yuancheng Y; Mao, Hui H; Aguiar, Mike M; Famulare, Christopher A CA; Shih, Alan H AH; Brennan, Cameron W CW; Gao, Xue X; Pan, Yaozhu Y; Liu, Shuangping S; Fan, Jun J; Jin, Lingtao L; Song, Lina L; Zhou, An A; Mukherjee, Joydeep J; Pieper, Russell O RO; Mishra, Ashutosh A; Peng, Junmin J; Arellano, Martha M; Blum, William G WG; Lonial, Sagar S; Boggon, Titus J TJ; Levine, Ross L RL; Chen, Jing J
Publication Date: 2019-06

Variant appearance in text: IDH1: Y139F
PubMed Link: 30862724
Variant Present in the following documents:
  • Main text
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: IDH1: Y139F
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page