KMT2C c.14482C>T ;(p.R4828C)

Variant ID: 7-151836323-G-A

NM_170606.2(KMT2C):c.14482C>T;(p.R4828C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; BalmaƱa, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: KMT2C: R4828C
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics
Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2020-11-30

Variant appearance in text: KMT2C: Arg4828Cys
PubMed Link: 33256706
Variant Present in the following documents:
  • 12920_2020_824_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Mutational analysis of uterine cervical cancer that survived multiple rounds of radiotherapy.

Oncotarget
Nuryadi, Endang E; Sasaki, Yasushi Y; Hagiwara, Yoshihiko Y; Permata, Tiara Bunga Mayang TBM; Sato, Hiro H; Komatsu, Shuichiro S; Yoshimoto, Yuya Y; Murata, Kazutoshi K; Ando, Ken K; Kubo, Nobuteru N; Okonogi, Noriyuki N; Takakusagi, Yosuke Y; Adachi, Akiko A; Iwanaga, Mototaro M; Tsuchida, Keisuke K; Tamaki, Tomoaki T; Noda, Shin-Ei SE; Hirota, Yuka Y; Shibata, Atsushi A; Ohno, Tatsuya T; Tokino, Takashi T; Oike, Takahiro T; Nakano, Takashi T
Publication Date: 2018-08-24

Variant appearance in text: KMT2C: Arg4828Cys
PubMed Link: 30220971
Variant Present in the following documents:
  • oncotarget-09-32642-s001.pdf
View BVdb publication page