KIT c.1288G>A ;(p.A430T)

Variant ID: 4-55589806-G-A

NM_000222.2(KIT):c.1288G>A;(p.A430T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.

Clinical And Translational Medicine
Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X
Publication Date: 2021-11

Variant appearance in text: KIT: 1288G>A; Ala430Thr
PubMed Link: 34841677
Variant Present in the following documents:
  • CTM2-11-e567-s004.xlsx, sheet 5
View BVdb publication page



Tumor DNA From Tumor In Situ Fluid Reveals Mutation Landscape of Minimal Residual Disease After Glioma Surgery and Risk of Early Recurrence.

Frontiers In Oncology
Yu, Jinliang J; Sheng, Zhiyuan Z; Wu, Shuang S; Gao, Yushuai Y; Yan, Zhaoyue Z; Bu, Chaojie C; Gu, Jianjun J; Bu, Yage Y; Deng, Kaiyuan K; Xu, Sensen S; Chen, Zhongcan Z; Zhang, Qianqian Q; Zemmar, Ajmal A; Hernesniemi, Juha J; Wang, Meiyun M; Liu, Gang G; Li, Tianxiao T; Bu, Xingyao X
Publication Date: 2021

Variant appearance in text: KIT: 1288G>A; A430T
PubMed Link: 34712610
Variant Present in the following documents:
  • DataSheet_1.xls, sheet 6
View BVdb publication page



In-depth molecular analysis of combined and co-primary pulmonary large cell neuroendocrine carcinoma and adenocarcinoma.

International Journal Of Cancer
Hermans, Bregtje C M BCM; Derks, Jules L JL; Hillen, Lisa M LM; van der Baan, Irene I; van den Broek, Esther C EC; von der Thüsen, Jan H JH; van Suylen, Robert-Jan RJ; Atmodimedjo, Peggy N PN; den Toom, T Dorine TD; Coumans-Stallinga, Cecile C; Timens, Wim W; Dinjens, Winand N M WNM; Dubbink, Hendrikus J HJ; Speel, Ernst-Jan M EM; Dingemans, Anne-Marie C AC; ,
Publication Date: 2022-03-01

Variant appearance in text: KIT: 1288G>A; A430T
PubMed Link: 34674268
Variant Present in the following documents:
  • IJC-150-802-s001.pdf
View BVdb publication page



Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications
Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA
Publication Date: 2020-04-24

Variant appearance in text: KIT: 1288G>A; A430T
PubMed Link: 32332851
Variant Present in the following documents:
  • 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page