KIT c.812G>A ;(p.R271H)

Variant ID: 4-55569945-G-A

NM_000222.2(KIT):c.812G>A;(p.R271H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.

Jama Network Open
Liu, Ze-Xian ZX; Zhang, Xiao-Long XL; Zhao, Qi Q; Chen, Yungchang Y; Sheng, Hui H; He, Cai-Yun CY; Sun, Yu-Ting YT; Lai, Ming-Yu MY; Wu, Min-Qing MQ; Zuo, Zhi-Xiang ZX; Wang, Wei W; Zhou, Zhi-Wei ZW; Wang, Feng-Hua FH; Li, Yu-Hong YH; Xu, Rui-Hua RH; Qiu, Miao-Zhen MZ
Publication Date: 2022-12-01

Variant appearance in text: KIT: R271H
PubMed Link: 36484990
Variant Present in the following documents:
  • jamanetwopen-e2245836-s002.xlsx, sheet 3
View BVdb publication page



Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.

Blood Cancer Journal
Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-07-04

Variant appearance in text: KIT: R271H
PubMed Link: 35788129
Variant Present in the following documents:
  • 41408_2022_699_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: KIT: R271H
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Experimental Hematology & Oncology
Ye, Yingying Y; Ding, Ning N; Mi, Lan L; Shi, Yunfei Y; Liu, Weiping W; Song, Yuqin Y; Shu, Shaokun S; Zhu, Jun J
Publication Date: 2021-02-05

Variant appearance in text: KIT: 812G>A; R271H
PubMed Link: 33546774
Variant Present in the following documents:
  • 40164_2021_200_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Oncotarget
Xiu, Joanne J; Piccioni, David D; Juarez, Tiffany T; Pingle, Sandeep C SC; Hu, Jethro J; Rudnick, Jeremy J; Fink, Karen K; Spetzler, David B DB; Maney, Todd T; Ghazalpour, Anatole A; Bender, Ryan R; Gatalica, Zoran Z; Reddy, Sandeep S; Sanai, Nader N; Idbaih, Ahmed A; Glantz, Michael M; Kesari, Santosh S
Publication Date: 2016-04-19

Variant appearance in text: KIT: R271H
PubMed Link: 26933808
Variant Present in the following documents:
  • oncotarget-07-21556-s001.pdf
View BVdb publication page