KMT2D c.4171G>A ;(p.E1391K)

Variant ID: 12-49441813-C-T

NM_003482.3(KMT2D):c.4171G>A;(p.E1391K)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: KMT2D: 4171G>A; Glu1391Lys
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA.

Nature
Abbosh, Christopher C; Frankell, Alexander M AM; Harrison, Thomas T; Kisistok, Judit J; Garnett, Aaron A; Johnson, Laura L; Veeriah, Selvaraju S; Moreau, Mike M; Chesh, Adrian A; Chaunzwa, Tafadzwa L TL; Weiss, Jakob J; Schroeder, Morgan R MR; Ward, Sophia S; Grigoriadis, Kristiana K; Shahpurwalla, Aamir A; Litchfield, Kevin K; Puttick, Clare C; Biswas, Dhruva D; Karasaki, Takahiro T; Black, James R M JRM; Martínez-Ruiz, Carlos C; Bakir, Maise Al MA; Pich, Oriol O; Watkins, Thomas B K TBK; Lim, Emilia L EL; Huebner, Ariana A; Moore, David A DA; Godin-Heymann, Nadia N; L'Hernault, Anne A; Bye, Hannah H; Odell, Aaron A; Roberts, Paula P; Gomes, Fabio F; Patel, Akshay J AJ; Manzano, Elizabeth E; Hiley, Crispin T CT; Carey, Nicolas N; Riley, Joan J; Cook, Daniel E DE; Hodgson, Darren D; Stetson, Daniel D; Barrett, J Carl JC; Kortlever, Roderik M RM; Evan, Gerard I GI; Hackshaw, Allan A; Daber, Robert D RD; Shaw, Jacqui A JA; Aerts, Hugo J W L HJWL; Licon, Abel A; Stahl, Josh J; Jamal-Hanjani, Mariam M; , ; Birkbak, Nicolai J NJ; McGranahan, Nicholas N; Swanton, Charles C
Publication Date: 2023-04-13

Variant appearance in text: KMT2D: E1391K
PubMed Link: 37055640
Variant Present in the following documents:
  • EMS176197-supplement-Supplementary_Table_1.xlsx, sheet 18
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: KMT2D: E1391K
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: KMT2D: E1391K
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: KMT2D: E1391K
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Frontiers In Oncology
Jin, Rui R; Peng, Ling L; Shou, Jiawei J; Wang, Jin J; Jin, Yin Y; Liang, Fei F; Zhao, Jing J; Wu, Mengmeng M; Li, Qin Q; Zhang, Bin B; Wu, Xiaoying X; Lan, Fen F; Xia, Lixia L; Yan, Junrong J; Shao, Yang Y; Stebbing, Justin J; Shen, Huahao H; Li, Wen W; Xia, Yang Y
Publication Date: 2021

Variant appearance in text: KMT2D: 4171G>A; E1391K
PubMed Link: 34195081
Variant Present in the following documents:
  • Table_2.xlsx, sheet 3
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: KMT2D: E1391K
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: KMT2D: 4171G>A; E1391K
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: KMT2D: Glu1391Lys
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Profiles of genomic alterations in primary esophageal follicular dendritic cell sarcoma: A case report.

Medicine
Ren, Wei W; Sun, Qi Q; Wu, Pu-Yuan PY; Huang, Bin B; Yang, Ju J; Yan, Jing J; Liu, Bao-Rui BR
Publication Date: 2018-11

Variant appearance in text: KMT2D: E1391K
PubMed Link: 30508944
Variant Present in the following documents:
  • medi-97-e13413.pdf
View BVdb publication page



Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Human Molecular Genetics
Cocciadiferro, Dario D; Augello, Bartolomeo B; De Nittis, Pasquelena P; Zhang, Jiyuan J; Mandriani, Barbara B; Malerba, Natascia N; Squeo, Gabriella M GM; Romano, Alessandro A; Piccinni, Barbara B; Verri, Tiziano T; Micale, Lucia L; Pasqualucci, Laura L; Merla, Giuseppe G
Publication Date: 2018-11-01

Variant appearance in text: KMT2D: 4171G>A; Glu1391Lys
PubMed Link: 30107592
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Genome Medicine
Loviglio, Maria Nicla MN; Beck, Christine R CR; White, Janson J JJ; Leleu, Marion M; Harel, Tamar T; Guex, Nicolas N; Niknejad, Anne A; Bi, Weimin W; Chen, Edward S ES; Crespo, Isaac I; Yan, Jiong J; Charng, Wu-Lin WL; Gu, Shen S; Fang, Ping P; Coban-Akdemir, Zeynep Z; Shaw, Chad A CA; Jhangiani, Shalini N SN; Muzny, Donna M DM; Gibbs, Richard A RA; Rougemont, Jacques J; Xenarios, Ioannis I; Lupski, James R JR; Reymond, Alexandre A
Publication Date: 2016-11-01

Variant appearance in text: KMT2D: E1391K
PubMed Link: 27799067
Variant Present in the following documents:
  • 13073_2016_359_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Human Mutation
Micale, Lucia L; Augello, Bartolomeo B; Maffeo, Claudia C; Selicorni, Angelo A; Zucchetti, Federica F; Fusco, Carmela C; De Nittis, Pasquelena P; Pellico, Maria Teresa MT; Mandriani, Barbara B; Fischetto, Rita R; Boccone, Loredana L; Silengo, Margherita M; Biamino, Elisa E; Perria, Chiara C; Sotgiu, Stefano S; Serra, Gigliola G; Lapi, Elisabetta E; Neri, Marcella M; Ferlini, Alessandra A; Cavaliere, Maria Luigia ML; Chiurazzi, Pietro P; Monica, Matteo Della MD; Scarano, Gioacchino G; Faravelli, Francesca F; Ferrari, Paola P; Mazzanti, Laura L; Pilotta, Alba A; Patricelli, Maria Grazia MG; Bedeschi, Maria Francesca MF; Benedicenti, Francesco F; Prontera, Paolo P; Toschi, Benedetta B; Salviati, Leonardo L; Melis, Daniela D; Di Battista, Eliana E; Vancini, Alessandra A; Garavelli, Livia L; Zelante, Leopoldo L; Merla, Giuseppe G
Publication Date: 2014-07

Variant appearance in text: KMT2D: 4171G>A; Glu1391Lys
PubMed Link: 24633898
Variant Present in the following documents:
  • humu0035-0841-SD2.pdf
View BVdb publication page