KMT2D c.11944C>T ;(p.R3982*)

Variant ID: 12-49426544-G-A

NM_003482.3(KMT2D):c.11944C>T;(p.R3982*)

This variant was identified in 11 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: 11944C>T; Arg3982Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Lenalidomide plus R-GDP (R2-GDP) in Relapsed/Refractory Diffuse Large B-Cell Lymphoma: Final Results of the R2-GDP-GOTEL Trial and Immune Biomarker Subanalysis.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Palazón-Carrión, Natalia N; Martín García-Sancho, Alejandro A; Nogales-Fernández, Esteban E; Jiménez-Cortegana, Carlos C; Carnicero-González, Fernando F; Ríos-Herranz, Eduardo E; de la Cruz-Vicente, Fátima F; Rodríguez-García, Guillermo G; Fernández-Álvarez, Rubén R; Martínez-Banaclocha, Natividad N; Gumà-Padrò, Josep J; Gómez-Codina, José J; Salar-Silvestre, Antonio A; Rodríguez-Abreu, Delvys D; Gálvez-Carvajal, Laura L; Labrador, Jorge J; Guirado-Risueño, María M; García-Domínguez, Daniel J DJ; Hontecillas-Prieto, Lourdes L; Espejo-García, Pablo P; Fernández-Román, Isabel I; Provencio-Pulla, Mariano M; Sánchez-Beato, Margarita M; Navarro, Marta M; Marylene, Lejeune L; Álvaro-Naranjo, Tomás T; Casanova-Espinosa, Maria M; Sánchez-Margalet, Victor V; Rueda-Domínguez, Antonio A; de la Cruz-Merino, Luis L
Publication Date: 2022-09-01

Variant appearance in text: KMT2D: R3982X
PubMed Link: 35727601
Variant Present in the following documents:
  • ccr-22-0588_table_s7_suppts7.xlsx, sheet 1
View BVdb publication page



Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood Advances
Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q
Publication Date: 2022-09-27

Variant appearance in text: KMT2D: R3982X
PubMed Link: 35687490
Variant Present in the following documents:
  • advancesADV2021006654-suppl4.xlsx, sheet 11
  • advancesADV2021006654-suppl12.xlsx, sheet 1
View BVdb publication page



Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: KMT2D: R3982*
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
  • NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
View BVdb publication page



Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: KMT2D: R3982*
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: KMT2D: 11944C>T; R3982*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia
Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ
Publication Date: 2020-05

Variant appearance in text: KMT2D: R3982X
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



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: KMT2D: 11944C>T; R3982*
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 32
View BVdb publication page



Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Human Molecular Genetics
Cocciadiferro, Dario D; Augello, Bartolomeo B; De Nittis, Pasquelena P; Zhang, Jiyuan J; Mandriani, Barbara B; Malerba, Natascia N; Squeo, Gabriella M GM; Romano, Alessandro A; Piccinni, Barbara B; Verri, Tiziano T; Micale, Lucia L; Pasqualucci, Laura L; Merla, Giuseppe G
Publication Date: 2018-11-01

Variant appearance in text: KMT2D: 11944C>T; Arg3982*
PubMed Link: 30107592
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets.

Leukemia
Karube, K K; Enjuanes, A A; Dlouhy, I I; Jares, P P; Martin-Garcia, D D; Nadeu, F F; Ordóñez, G R GR; Rovira, J J; Clot, G G; Royo, C C; Navarro, A A; Gonzalez-Farre, B B; Vaghefi, A A; Castellano, G G; Rubio-Perez, C C; Tamborero, D D; Briones, J J; Salar, A A; Sancho, J M JM; Mercadal, S S; Gonzalez-Barca, E E; Escoda, L L; Miyoshi, H H; Ohshima, K K; Miyawaki, K K; Kato, K K; Akashi, K K; Mozos, A A; Colomo, L L; Alcoceba, M M; Valera, A A; Carrió, A A; Costa, D D; Lopez-Bigas, N N; Schmitz, R R; Staudt, L M LM; Salaverria, I I; López-Guillermo, A A; Campo, E E
Publication Date: 2018-03

Variant appearance in text: KMT2D: 11944C>T; R3982*
PubMed Link: 28804123
Variant Present in the following documents:
  • leu2017251x2.xlsx, sheet 4
  • leu2017251x2.xlsx, sheet 3
View BVdb publication page



Genetic analysis of microglandular adenosis and acinic cell carcinomas of the breast provides evidence for the existence of a low-grade triple-negative breast neoplasia family.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Geyer, Felipe C FC; Berman, Samuel H SH; Marchiò, Caterina C; Burke, Kathleen A KA; Guerini-Rocco, Elena E; Piscuoglio, Salvatore S; Ng, Charlotte Ky CK; Pareja, Fresia F; Wen, Hannah Y HY; Hodi, Zoltan Z; Schnitt, Stuart J SJ; Rakha, Emad A EA; Ellis, Ian O IO; Norton, Larry L; Weigelt, Britta B; Reis-Filho, Jorge S JS
Publication Date: 2017-01

Variant appearance in text: KMT2D: Arg3982*
PubMed Link: 27713419
Variant Present in the following documents:
  • NIHMS807185-supplement-8.pdf
View BVdb publication page