KMT2C c.13630C>T ;(p.R4544W)

Variant ID: 7-151845382-G-A

NM_170606.2(KMT2C):c.13630C>T;(p.R4544W)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


SinoDuplex: An Improved Duplex Sequencing Approach to Detect Low-frequency Variants in Plasma cfDNA Samples.

Genomics, Proteomics & Bioinformatics
Ren, Yongzhe Y; Zhang, Yang Y; Wang, Dandan D; Liu, Fengying F; Fu, Ying Y; Xiang, Shaohua S; Su, Li L; Li, Jiancheng J; Dai, Heng H; Huang, Bingding B
Publication Date: 2020-02

Variant appearance in text: KMT2C: 13630C>T; R4544W
PubMed Link: 32428603
Variant Present in the following documents:
  • mmc6.xlsx, sheet 2
  • mmc8.xlsx, sheet 3
  • mmc8.xlsx, sheet 4
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: KMT2C: Arg4544Trp
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: MLL3: 13630C>T
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Frequent alteration of MLL3 frameshift mutations in microsatellite deficient colorectal cancer.

Plos One
Watanabe, Yoshiyuki Y; Castoro, Ryan J RJ; Kim, Hyun Soo HS; North, Brittany B; Oikawa, Ritsuko R; Hiraishi, Tetsuya T; Ahmed, Saira S SS; Chung, Woonbok W; Cho, Mee-Yon MY; Toyota, Minoru M; Itoh, Fumio F; Estecio, Marcos R H MR; Shen, Lanlan L; Jelinek, Jaroslav J; Issa, Jean-Pierre J JP
Publication Date: 2011

Variant appearance in text: MLL3: R4544W
PubMed Link: 21853109
Variant Present in the following documents:
  • Main text
  • pone.0023320.pdf
View BVdb publication page