KMT2C c.89C>A ;(p.A30E)

Variant ID: 7-152132783-G-T

NM_170606.2(KMT2C):c.89C>A;(p.A30E)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: KMT2C: A30E
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Mutually exclusive mutation profiles define functionally related genes in muscle invasive bladder cancer.

Plos One
Sangster, Ami G AG; Gooding, Robert J RJ; Garven, Andrew A; Ghaedi, Hamid H; Berman, David M DM; Davey, Scott K SK
Publication Date: 2022

Variant appearance in text: KMT2C: A30E
PubMed Link: 35073341
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutually exclusive mutation profiles define functionally related genes in muscle invasive bladder cancer.

Plos One
Sangster, Ami G AG; Gooding, Robert J RJ; Garven, Andrew A; Ghaedi, Hamid H; Berman, David M DM; Davey, Scott K SK
Publication Date: 2022

Variant appearance in text: KMT2C: A30E
PubMed Link: 35073341
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pseudogene ACTBP2 increases blood-brain barrier permeability by promoting KHDRBS2 transcription through recruitment of KMT2D/WDR5 in Aβ1-42 microenvironment.

Cell Death Discovery
Liu, Qianshuo Q; Liu, Xiaobai X; Zhao, Defeng D; Ruan, Xuelei X; Su, Rui R; Shang, Xiuli X; Wang, Di D; Yang, Chunqing C; Xue, Yixue Y
Publication Date: 2021-06-14

Variant appearance in text: KMT2C: A30E
PubMed Link: 34127651
Variant Present in the following documents:
  • Main text
View BVdb publication page



A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology
Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2020-02

Variant appearance in text: KMT2C: A30E
PubMed Link: 31844290
Variant Present in the following documents:
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 51
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 24
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: KMT2C: A30E
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



A novel genomic alteration of LSAMP associates with aggressive prostate cancer in African American men.

Ebiomedicine
Petrovics, Gyorgy G; Li, Hua H; Stümpel, Tanja T; Tan, Shyh-Han SH; Young, Denise D; Katta, Shilpa S; Li, Qiyuan Q; Ying, Kai K; Klocke, Bernward B; Ravindranath, Lakshmi L; Kohaar, Indu I; Chen, Yongmei Y; Ribli, Dezső D; Grote, Korbinian K; Zou, Hua H; Cheng, Joseph J; Dalgard, Clifton L CL; Zhang, Shimin S; Csabai, István I; Kagan, Jacob J; Takeda, David D; Loda, Massimo M; Srivastava, Sudhir S; Scherf, Matthias M; Seifert, Martin M; Gaiser, Timo T; McLeod, David G DG; Szallasi, Zoltan Z; Ebner, Reinhard R; Werner, Thomas T; Sesterhenn, Isabell A IA; Freedman, Matthew M; Dobi, Albert A; Srivastava, Shiv S
Publication Date: 2015-12

Variant appearance in text: KMT2C: A30E
PubMed Link: 26844274
Variant Present in the following documents:
  • mmc2.xlsx, sheet 12
View BVdb publication page