KMT2C c.2448C>A ;(p.Y816*)

Variant ID: 7-151945071-G-T

NM_170606.2(KMT2C):c.2448C>A;(p.Y816*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology
Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W
Publication Date: 2022

Variant appearance in text: MLL3: 2448C>A
PubMed Link: 36238300
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine
Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W
Publication Date: 2022-09-19

Variant appearance in text: MLL3: 2448C>A
PubMed Link: 36123678
Variant Present in the following documents:
  • 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Double-layer omics analysis of castration- and X-ray-resistant prostate cancer cells.

Journal Of Radiation Research
Iwanaga, Mototaro M; Kawamura, Hidemasa H; Kubo, Nobuteru N; Mizukami, Tatsuji T; Oike, Takahiro T; Sato, Hiro H; Miyazawa, Yoshiyuki Y; Sekine, Yoshitaka Y; Kawabata-Iwakawa, Reika R; Nishiyama, Masahiko M; Ohno, Tatsuya T; Nakano, Takashi T
Publication Date: 2022-07-19

Variant appearance in text: KMT2C: Tyr816Ter; rs202184064
PubMed Link: 35589101
Variant Present in the following documents:
  • s1_table_rrac022.xlsx, sheet 1
View BVdb publication page



Exome sequencing of glioblastoma-derived cancer stem cells reveals rare clinically relevant frameshift deletion in MLLT1 gene.

Cancer Cell International
Marei, Hany E HE; Althani, Asmaa A; Afifi, Nahla N; Hasan, Anwarul A; Caceci, Thomas T; Felsani, Armando A; Tringali, Giuseppe G; Cifola, Ingrid I; Pozzoli, Giacomo G; Cenciarelli, Carlo C
Publication Date: 2022-01-07

Variant appearance in text: KMT2C: Tyr816Ter
PubMed Link: 34996478
Variant Present in the following documents:
  • Main text
  • 12935_2021_Article_2419.pdf
View BVdb publication page



Exome sequencing of glioblastoma-derived cancer stem cells reveals rare clinically relevant frameshift deletion in MLLT1 gene.

Cancer Cell International
Marei, Hany E HE; Althani, Asmaa A; Afifi, Nahla N; Hasan, Anwarul A; Caceci, Thomas T; Felsani, Armando A; Tringali, Giuseppe G; Cifola, Ingrid I; Pozzoli, Giacomo G; Cenciarelli, Carlo C
Publication Date: 2022-01-07

Variant appearance in text: KMT2C: Tyr816Ter
PubMed Link: 34996478
Variant Present in the following documents:
  • Main text
  • 12935_2021_Article_2419.pdf
View BVdb publication page



Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

Nature Communications
He, Chen C; Xu, Ke K; Zhu, Xiaoyan X; Dunphy, Paige S PS; Gudenas, Brian B; Lin, Wenwei W; Twarog, Nathaniel N; Hover, Laura D LD; Kwon, Chang-Hyuk CH; Kasper, Lawryn H LH; Zhang, Junyuan J; Li, Xiaoyu X; Dalton, James J; Jonchere, Barbara B; Mercer, Kimberly S KS; Currier, Duane G DG; Caufield, William W; Wang, Yingzhe Y; Xie, Jia J; Broniscer, Alberto A; Wetmore, Cynthia C; Upadhyaya, Santhosh A SA; Qaddoumi, Ibrahim I; Klimo, Paul P; Boop, Frederick F; Gajjar, Amar A; Zhang, Jinghui J; Orr, Brent A BA; Robinson, Giles W GW; Monje, Michelle M; Freeman Iii, Burgess B BB; Roussel, Martine F MF; Northcott, Paul A PA; Chen, Taosheng T; Rankovic, Zoran Z; Wu, Gang G; Chiang, Jason J; Tinkle, Christopher L CL; Shelat, Anang A AA; Baker, Suzanne J SJ
Publication Date: 2021-07-02

Variant appearance in text: MLL3: Y816*
PubMed Link: 34215733
Variant Present in the following documents:
  • 41467_2021_24168_MOESM5_ESM.xlsx, sheet 7
View BVdb publication page



Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations.

Oncotarget
Spinella, Jean-François JF; Cassart, Pauline P; Richer, Chantal C; Saillour, Virginie V; Ouimet, Manon M; Langlois, Sylvie S; St-Onge, Pascal P; Sontag, Thomas T; Healy, Jasmine J; Minden, Mark D MD; Sinnett, Daniel D
Publication Date: 2016-10-04

Variant appearance in text: rs202184064
PubMed Link: 27602765
Variant Present in the following documents:
  • oncotarget-07-65485-s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25333361
Variant Present in the following documents:
View BVdb publication page