KMT2D c.10774A>C ;(p.M3592L)

Variant ID: 12-49427714-T-G

NM_003482.3(KMT2D):c.10774A>C;(p.M3592L)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: KMT2D: 10774A>C; Met3592Leu
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Evolutionary route of nasopharyngeal carcinoma metastasis and its clinical significance.

Nature Communications
Lin, Mei M; Zhang, Xiao-Long XL; You, Rui R; Liu, You-Ping YP; Cai, Hong-Min HM; Liu, Li-Zhi LZ; Liu, Xue-Fei XF; Zou, Xiong X; Xie, Yu-Long YL; Zou, Ru-Hai RH; Zhang, Yi-Nuan YN; Sun, Rui R; Feng, Wei-Yi WY; Wang, Hai-Yan HY; Tao, Gui-Hua GH; Li, Hao-Jiang HJ; Huang, Wen-Jie WJ; Zhang, Chao C; Huang, Pei-Yu PY; Wang, Jin J; Zhao, Qi Q; Yang, Qi Q; Zhang, Hong-Wan HW; Liu, Ting T; Li, Hui-Feng HF; Jiang, Xiao-Bing XB; Tang, Jun J; Gu, Yang-Kui YK; Yu, Tao T; Wang, Zhi-Qiang ZQ; Feng, Lin L; Kang, Tie-Bang TB; Zuo, Zhi-Xiang ZX; Chen, Ming-Yuan MY
Publication Date: 2023-02-04

Variant appearance in text: KMT2D: 10774A>C; M3592L
PubMed Link: 36739462
Variant Present in the following documents:
  • 41467_2023_35995_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Spectrum and clinical features of gene mutations in Chinese pediatric acute lymphoblastic leukemia.

Bmc Pediatrics
Shen, Diying D; Liu, Lixia L; Xu, Xiaojun X; Song, Hua H; Zhang, Jingying J; Xu, Weiqun W; Zhao, Fenying F; Liang, Juan J; Liao, Chan C; Wang, Yan Y; Xia, Tian T; Wang, Chengcheng C; Lou, Feng F; Cao, Shanbo S; Qin, Jiayue J; Tang, Yongmin Y
Publication Date: 2023-02-04

Variant appearance in text: KMT2D: 10774A>C; M3592L
PubMed Link: 36739388
Variant Present in the following documents:
  • 12887_2023_3856_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: KMT2D: M3592L
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses.

Npj Genomic Medicine
Jeong, Nahyun N; Kim, Soon-Chan SC; Park, Ji Won JW; Park, Seul Gi SG; Nam, Ki-Hoan KH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Jeong, Seung-Yong SY; Kim, Min Jung MJ; Ku, Ja-Lok JL
Publication Date: 2022-07-19

Variant appearance in text: KMT2D: 10774A>C; Met3592Leu
PubMed Link: 35853873
Variant Present in the following documents:
  • 41525_2022_313_MOESM3_ESM.xlsx, sheet 3
  • 41525_2022_313_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Cyrta, Joanna J; Benoist, Camille C; Masliah-Planchon, Julien J; Vieira, Andre F AF; Pierron, Gaëlle G; Fuhrmann, Laetitia L; Richardot, Camille C; Caly, Martial M; Leclere, Renaud R; Mariani, Odette O; Da Maia, Elisabeth E; Larousserie, Frédérique F; Féron, Jean Guillaume JG; Carton, Matthieu M; Renault, Victor V; Bidard, François-Clément FC; Vincent-Salomon, Anne A
Publication Date: 2022-11

Variant appearance in text: KMT2D: 10774A>C; Met3592Leu
PubMed Link: 35697931
Variant Present in the following documents:
  • 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients.

Frontiers In Molecular Biosciences
Ke, Lixin L; Shen, Jianming J; Feng, Jikun J; Chen, Jialin J; Shen, Shunli S; Li, Shaoqiang S; Kuang, Ming M; Liang, Lijian L; Lu, Cuncun C; Li, Dongming D; He, Qiang Q; Peng, Baogang B; Hua, Yunpeng Y
Publication Date: 2021

Variant appearance in text: KMT2D: 10774A>C; M3592L
PubMed Link: 35118119
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Establishment and Characterization of a Novel Human Ocular Adnexal Sebaceous Carcinoma Cell Line.

Translational Vision Science & Technology
Rong, Andrew J AJ; Gallo, Ryan A RA; Zhang, Michelle G MG; Doddapaneni, Ravi R; Griswold, Anthony J AJ; Lee, John Y JY; Kurtenbach, Stefan S; Dubovy, Sander R SR; Tse, David T DT; Pelaez, Daniel D
Publication Date: 2021-05-03

Variant appearance in text: KMT2D: M3592L
PubMed Link: 34043754
Variant Present in the following documents:
  • tvst-10-6-34_s002.xlsx, sheet 1
View BVdb publication page