MUC16 c.37423C>T ;(p.R12475W)

Variant ID: 19-9020072-G-A

NM_024690.2(MUC16):c.37423C>T;(p.R12475W)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.

Experimental Hematology & Oncology
Li, Shan-Shan SS; Zhai, Xiao-Hui XH; Liu, Hai-Ling HL; Liu, Ting-Zhi TZ; Cao, Tai-Yuan TY; Chen, Dong-Mei DM; Xiao, Le-Xin LX; Gan, Xiao-Qin XQ; Cheng, Ke K; Hong, Wan-Jia WJ; Huang, Yan Y; Lian, Yi-Fan YF; Xiao, Jian J
Publication Date: 2022-10-15

Variant appearance in text: MUC16: 37423C>T; Arg12475Trp
PubMed Link: 36243813
Variant Present in the following documents:
  • 40164_2022_325_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Detection of early seeding of Richter transformation in chronic lymphocytic leukemia.

Nature Medicine
Nadeu, Ferran F; Royo, Romina R; Massoni-Badosa, Ramon R; Playa-Albinyana, Heribert H; Garcia-Torre, Beatriz B; Duran-Ferrer, Martí M; Dawson, Kevin J KJ; Kulis, Marta M; Diaz-Navarro, Ander A; Villamor, Neus N; Melero, Juan L JL; Chapaprieta, Vicente V; Dueso-Barroso, Ana A; Delgado, Julio J; Moia, Riccardo R; Ruiz-Gil, Sara S; Marchese, Domenica D; Giró, Ariadna A; Verdaguer-Dot, Núria N; Romo, Mónica M; Clot, Guillem G; Rozman, Maria M; Frigola, Gerard G; Rivas-Delgado, Alfredo A; Baumann, Tycho T; Alcoceba, Miguel M; González, Marcos M; Climent, Fina F; Abrisqueta, Pau P; Castellví, Josep J; Bosch, Francesc F; Aymerich, Marta M; Enjuanes, Anna A; Ruiz-Gaspà, Sílvia S; López-Guillermo, Armando A; Jares, Pedro P; Beà, Sílvia S; Capella-Gutierrez, Salvador S; Gelpí, Josep Ll JL; López-Bigas, Núria N; Torrents, David D; Campbell, Peter J PJ; Gut, Ivo I; Rossi, Davide D; Gaidano, Gianluca G; Puente, Xose S XS; Garcia-Roves, Pablo M PM; Colomer, Dolors D; Heyn, Holger H; Maura, Francesco F; Martín-Subero, José I JI; Campo, Elías E
Publication Date: 2022-08

Variant appearance in text: MUC16: 37423C>T; Arg12475Trp
PubMed Link: 35953718
Variant Present in the following documents:
  • 41591_2022_1927_MOESM3_ESM.xlsx, sheet 21
View BVdb publication page



Knockdown of MUC16 (CA125) Enhances the Migration and Invasion of Hepatocellular Carcinoma Cells.

Frontiers In Oncology
Huang, Yao Y; Huang, Xiaoyu X; Zeng, Jianxing J; Lin, Jun J
Publication Date: 2021

Variant appearance in text: MUC16: R12475W
PubMed Link: 34150633
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: MUC16: R12475W
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: rs566860711
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: MUC16: R12475W
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page