KMT2D c.4832G>A ;(p.R1611Q)

Variant ID: 12-49438658-C-T

NM_003482.3(KMT2D):c.4832G>A;(p.R1611Q)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: KMT2D: R1611Q
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.

Oncogene
Mota, Alba A; Oltra, Sara S SS; Selenica, Pier P; Moiola, Cristian P CP; Casas-Arozamena, Carlos C; López-Gil, Carlos C; Diaz, Eva E; Gatius, Sonia S; Ruiz-Miro, María M; Calvo, Ana A; Rojo-Sebastián, Alejandro A; Hurtado, Pablo P; Piñeiro, Roberto R; Colas, Eva E; Gil-Moreno, Antonio A; Reis-Filho, Jorge S JS; Muinelo-Romay, Laura L; Abal, Miguel M; Matias-Guiu, Xavier X; Weigelt, Britta B; Moreno-Bueno, Gema G
Publication Date: 2022-03

Variant appearance in text: KMT2D: R1611Q
PubMed Link: 35145232
Variant Present in the following documents:
  • 41388_2022_2221_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: KMT2D: R1611Q
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: KMT2D: R1611Q
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page