KMT2D c.15286C>T ;(p.Q5096*)

Variant ID: 12-49420463-G-A

NM_003482.3(KMT2D):c.15286C>T;(p.Q5096*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: KMT2D: 15286C>T; Gln5096Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
  • 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4
View BVdb publication page



KRAS signaling in malignant pleural mesothelioma.

Embo Molecular Medicine
Marazioti, Antonia A; Krontira, Anthi C AC; Behrend, Sabine J SJ; Giotopoulou, Georgia A GA; Ntaliarda, Giannoula G; Blanquart, Christophe C; Bayram, Hasan H; Iliopoulou, Marianthi M; Vreka, Malamati M; Trassl, Lilith L; Pepe, Mario A A MAA; Hackl, Caroline M CM; Klotz, Laura V LV; Weiss, Stefanie A I SAI; Koch, Ina I; Lindner, Michael M; Hatz, Rudolph A RA; Behr, Juergen J; Wagner, Darcy E DE; Papadaki, Helen H; Antimisiaris, Sophia G SG; Jean, Didier D; Deshayes, Sophie S; Grégoire, Marc M; Kayalar, Özgecan Ö; Mortazavi, Deniz D; Dilege, Şükrü Ş; Tanju, Serhan S; Erus, Suat S; Yavuz, Ömer Ö; Bulutay, Pınar P; Fırat, Pınar P; Psallidas, Ioannis I; Spella, Magda M; Giopanou, Ioanna I; Lilis, Ioannis I; Lamort, Anne-Sophie AS; Stathopoulos, Georgios T GT
Publication Date: 2022-02-07

Variant appearance in text: KMT2D: 15286C>T; Q5096*
PubMed Link: 34898002
Variant Present in the following documents:
  • EMMM-14-e13631-s002.xlsx, sheet 3
View BVdb publication page



KRAS signaling in malignant pleural mesothelioma.

Embo Molecular Medicine
Marazioti, Antonia A; Krontira, Anthi C AC; Behrend, Sabine J SJ; Giotopoulou, Georgia A GA; Ntaliarda, Giannoula G; Blanquart, Christophe C; Bayram, Hasan H; Iliopoulou, Marianthi M; Vreka, Malamati M; Trassl, Lilith L; Pepe, Mario A A MAA; Hackl, Caroline M CM; Klotz, Laura V LV; Weiss, Stefanie A I SAI; Koch, Ina I; Lindner, Michael M; Hatz, Rudolph A RA; Behr, Juergen J; Wagner, Darcy E DE; Papadaki, Helen H; Antimisiaris, Sophia G SG; Jean, Didier D; Deshayes, Sophie S; Grégoire, Marc M; Kayalar, Özgecan Ö; Mortazavi, Deniz D; Dilege, Şükrü Ş; Tanju, Serhan S; Erus, Suat S; Yavuz, Ömer Ö; Bulutay, Pınar P; Fırat, Pınar P; Psallidas, Ioannis I; Spella, Magda M; Giopanou, Ioanna I; Lilis, Ioannis I; Lamort, Anne-Sophie AS; Stathopoulos, Georgios T GT
Publication Date: 2021-12-13

Variant appearance in text: KMT2D: 15286C>T; Q5096*
PubMed Link: 34898002
Variant Present in the following documents:
  • EMMM-14-e13631-s002.xlsx, sheet 3
View BVdb publication page



Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

Clinical And Translational Medicine
He, Cai-Yun CY; Qiu, Miao-Zhen MZ; Yang, Xin-Hua XH; Zhou, Da-Lei DL; Ma, Jiang-Jun JJ; Long, Ya-Kang YK; Ye, Zu-Lu ZL; Xu, Bo-Heng BH; Zhao, Qi Q; Jin, Ying Y; Lu, Shi-Xun SX; Wang, Zhi-Qiang ZQ; Guan, Wen-Long WL; Zhao, Bai-Wei BW; Zhou, Zhi-Wei ZW; Shao, Jian-Yong JY; Xu, Rui-Hua RH
Publication Date: 2020-01

Variant appearance in text: KMT2D: 15286C>T; Gln5096*
PubMed Link: 32508039
Variant Present in the following documents:
  • CTM2-10-353-s003.xlsx, sheet 3
View BVdb publication page



Profiling of Circulating Free DNA Using Targeted and Genome-wide Sequencing in Patients with SCLC.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Mohan, Sumitra S; Foy, Victoria V; Ayub, Mahmood M; Leong, Hui Sun HS; Schofield, Pieta P; Sahoo, Sudhakar S; Descamps, Tine T; Kilerci, Bedirhan B; Smith, Nigel K NK; Carter, Mathew M; Priest, Lynsey L; Zhou, Cong C; Carr, T Hedley TH; Miller, Crispin C; Faivre-Finn, Corinne C; Blackhall, Fiona F; Rothwell, Dominic G DG; Dive, Caroline C; Brady, Gerard G
Publication Date: 2020-02

Variant appearance in text: KMT2D: 15286C>T; Q5096*
PubMed Link: 31629061
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page