KMT2D c.2481A>T ;(p.Q827H)

Variant ID: 12-49444985-T-A

NM_003482.3(KMT2D):c.2481A>T;(p.Q827H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: KMT2D: Q827H
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing.

Journal Of Pathology Informatics
Tuteja, Sachleen S; Kadri, Sabah S; Yap, Kai Lee KL
Publication Date: 2022

Variant appearance in text: KMT2D: 2481A>T; Q827H
PubMed Link: 36268089
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



PPARγ Targets-Derived Diagnostic and Prognostic Index for Papillary Thyroid Cancer.

Cancers
Kim, Jaehyung J; Kim, Soo Young SY; Ma, Shi-Xun SX; Kim, Seok-Mo SM; Shin, Su-Jin SJ; Lee, Yong Sang YS; Chang, Hojin H; Chang, Hang-Seok HS; Park, Cheong Soo CS; Lim, Su Bin SB
Publication Date: 2021-10-12

Variant appearance in text: KMT2D: Gln827His
PubMed Link: 34680260
Variant Present in the following documents:
  • Main text
  • cancers-13-05110.pdf
View BVdb publication page



Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.

Scientific Reports
Grant, Adam D AD; Vail, Paris P; Padi, Megha M; Witkiewicz, Agnieszka K AK; Knudsen, Erik S ES
Publication Date: 2019-09-04

Variant appearance in text: KMT2D: Q827H
PubMed Link: 31484939
Variant Present in the following documents:
  • 41598_2019_48967_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Oncotarget
Dietz, Steffen S; Sültmann, Holger H; Du, YueJun Y; Reisinger, Eva E; Riediger, Anja Lisa AL; Volckmar, Anna-Lena AL; Stenzinger, Albrecht A; Schlesner, Matthias M; Jäger, Dirk D; Hohenfellner, Markus M; Duensing, Stefan S; Grüllich, Carsten C; Pahernik, Sascha S
Publication Date: 2017-09-26

Variant appearance in text: KMT2D: Q827H
PubMed Link: 29088767
Variant Present in the following documents:
  • oncotarget-08-74049-s002.xlsx, sheet 2
View BVdb publication page