KMT2C c.3274C>T ;(p.R1092*)

Variant ID: 7-151921149-G-A

NM_170606.2(KMT2C):c.3274C>T;(p.R1092*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


DNA Damage Repair Defects and Survival Outcomes for Patients With Resected Pancreatic Ductal Adenocarcinoma.

Pancreas
Chang, Amy E AE; Radke, Marc R MR; Zhen, David B DB; Baker, Kelsey K KK; Coveler, Andrew L AL; Wong, Kit Man KM; Pillarisetty, Venu G VG; Reddi, Deepti D; Redman, Mary W MW; Swisher, Elizabeth E; Chiorean, Elena Gabriela EG
Publication Date: 2021

Variant appearance in text: KMT2C: 3274C>T
PubMed Link: 34106577
Variant Present in the following documents:
  • Main text
View BVdb publication page



First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics
Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X
Publication Date: 2021-05-17

Variant appearance in text: KMT2C: R1092X; rs4024370
PubMed Link: 34001105
Variant Present in the following documents:
  • 12920_2021_979_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: KMT2C: R1092*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



A Targeted Gene Panel for Circulating Tumor DNA Sequencing in Neuroblastoma.

Frontiers In Oncology
Cimmino, Flora F; Lasorsa, Vito Alessandro VA; Vetrella, Simona S; Iolascon, Achille A; Capasso, Mario M
Publication Date: 2020

Variant appearance in text: KMT2C: R1092*
PubMed Link: 33381456
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 3
  • Image_3.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: KMT2C: 3274C>T; R1092*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Hepatoid adenocarcinoma of the stomach: a unique subgroup with distinct clinicopathological and molecular features.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Wang, Yakun Y; Sun, Li L; Li, Zhongwu Z; Gao, Jing J; Ge, Sai S; Zhang, Cheng C; Yuan, Jiajia J; Wang, Xicheng X; Li, Jian J; Lu, Zhihao Z; Gong, Jifang J; Lu, Ming M; Zhou, Jun J; Peng, Zhi Z; Shen, Lin L; Zhang, Xiaotian X
Publication Date: 2019-11

Variant appearance in text: KMT2C: R1092X; rs4024370
PubMed Link: 30989433
Variant Present in the following documents:
  • 10120_2019_965_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: KMT2C: 3274C>T; Arg1092*
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 3
View BVdb publication page



Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.

Nature Communications
Shen, Ying Y; Zhang, Feng F; Li, Fuping F; Jiang, Xiaohui X; Yang, Yihong Y; Li, Xiaoliang X; Li, Weiyu W; Wang, Xiang X; Cheng, Juan J; Liu, Mohan M; Zhang, Xueguang X; Yuan, Guiping G; Pei, Xue X; Cai, Kailai K; Hu, Fengyun F; Sun, Jianfeng J; Yan, Lanzhen L; Tang, Li L; Jiang, Chuan C; Tu, Wenling W; Xu, Jinyan J; Wu, Haojuan H; Kong, Weiqi W; Li, Shuying S; Wang, Ke K; Sheng, Kai K; Zhao, Xudong X; Yue, Huanxun H; Yang, Xiaoyu X; Xu, Wenming W
Publication Date: 2019-01-25

Variant appearance in text: MLL3: R1092*
PubMed Link: 30683861
Variant Present in the following documents:
  • 41467_2018_8182_MOESM10_ESM.xls, sheet 1
View BVdb publication page