KMT2C c.6577C>G ;(p.P2193A)

Variant ID: 7-151878368-G-C

NM_170606.2(KMT2C):c.6577C>G;(p.P2193A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Frontiers In Oncology
Olkinuora, Alisa Petriina AP; Mayordomo, Andrea Constanza AC; Kauppinen, Anni Katariina AK; Cerliani, María Belén MB; Coraglio, Mariana M; Collia, Ávila Karina ÁK; Gutiérrez, Alejandro A; Alvarez, Karin K; Cassana, Alessandra A; Lopéz-Köstner, Francisco F; Jauk, Federico F; García-Rivello, Hernán H; Ristimäki, Ari A; Koskenvuo, Laura L; Lepistö, Anna A; Nieminen, Taina Tuulikki TT; Vaccaro, Carlos Alberto CA; Pavicic, Walter Hernán WH; Peltomäki, Päivi P
Publication Date: 2022

Variant appearance in text: KMT2C: 6577C>G; Pro2193Ala
PubMed Link: 36387175
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



A transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma.

Scientific Reports
Warrick, Joshua I JI; Knowles, Margaret A MA; Hurst, Carolyn D CD; Shuman, Lauren L; Raman, Jay D JD; Walter, Vonn V; Putt, Jeffrey J; Dyrskjøt, Lars L; Groeneveld, Clarice C; Castro, Mauro A A MAA; Robertson, A Gordon AG; DeGraff, David J DJ
Publication Date: 2022-10-03

Variant appearance in text: KMT2C: 6577C>G; P2193A
PubMed Link: 36192513
Variant Present in the following documents:
  • 41598_2022_20927_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: KMT2C: 6577C>G; P2193A
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: KMT2C: 6577C>G
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 2
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: KMT2C: 6577C>G
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 2
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Comprehensive molecular profiling of pulmonary pleomorphic carcinoma.

Npj Precision Oncology
Nagano, Masaaki M; Kohsaka, Shinji S; Hayashi, Takuo T; Ueno, Toshihide T; Kojima, Shinya S; Shinozaki-Ushiku, Aya A; Morita, Shigeki S; Tsuda, Masumi M; Tanaka, Shinya S; Shinohara, Toshiya T; Omori, Yuko Y; Sugaya, Fumiko F; Kato, Hiroaki H; Narita, Yoshiaki Y; Nakajima, Jun J; Suzuki, Kenji K; Takamochi, Kazuya K; Mano, Hiroyuki H
Publication Date: 2021-06-22

Variant appearance in text: KMT2C: 6577C>G; Pro2193Ala
PubMed Link: 34158601
Variant Present in the following documents:
  • 41698_2021_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page