KMT2C c.1179C>G ;(p.N393K)

Variant ID: 7-151962128-G-C

NM_170606.2(KMT2C):c.1179C>G;(p.N393K)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: KMT2C: N393K
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 5
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: KMT2C: 1179C>G; N393K
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
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: KMT2C: N393K
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.

Communications Biology
Inagaki-Kawata, Yukiko Y; Yoshida, Kenichi K; Kawaguchi-Sakita, Nobuko N; Kawashima, Masahiro M; Nishimura, Tomomi T; Senda, Noriko N; Shiozawa, Yusuke Y; Takeuchi, Yasuhide Y; Inoue, Yoshikage Y; Sato-Otsubo, Aiko A; Fujii, Yoichi Y; Nannya, Yasuhito Y; Suzuki, Eiji E; Takada, Masahiro M; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Chiba, Kenichi K; Kataoka, Yuki Y; Torii, Masae M; Yoshibayashi, Hiroshi H; Yamagami, Kazuhiko K; Okamura, Ryuji R; Moriguchi, Yoshio Y; Kato, Hironori H; Tsuyuki, Shigeru S; Yamauchi, Akira A; Suwa, Hirofumi H; Inamoto, Takashi T; Miyano, Satoru S; Ogawa, Seishi S; Toi, Masakazu M
Publication Date: 2020-10-16

Variant appearance in text: KMT2C: N393K
PubMed Link: 33067557
Variant Present in the following documents:
  • 42003_2020_1301_MOESM1_ESM.pdf
View BVdb publication page



A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology
Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2020-02

Variant appearance in text: KMT2C: N393K
PubMed Link: 31844290
Variant Present in the following documents:
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 36
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 60
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 26
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 2
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 4
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 63
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 55
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 15
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 25
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 81
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 68
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 57
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 2
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 31
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 5
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 86
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 4
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 11
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 51
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An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: MLL3: N393K
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30
View BVdb publication page



KMT2C Mutations in Diffuse-Type Gastric Adenocarcinoma Promote Epithelial-to-Mesenchymal Transition.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Cho, Soo-Jeong SJ; Yoon, Changhwan C; Lee, Jun Ho JH; Chang, Kevin K KK; Lin, Jian-Xian JX; Kim, Young-Ho YH; Kook, Myeong-Cherl MC; Aksoy, Bülent Arman BA; Park, Do Joong DJ; Ashktorab, Hassan H; Smoot, Duane T DT; Schultz, Nikolaus N; Yoon, Sam S SS
Publication Date: 2018-12-15

Variant appearance in text: KMT2C: N393K
PubMed Link: 30108106
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: KMT2C: N393K
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-7.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page