KMT2C c.6G>A ;(p.S2=)

Variant ID: 7-152132866-C-T

NM_170606.2(KMT2C):c.6G>A;(p.S2=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: KMT2C: Ser2=
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Integrative analysis of genomic and transcriptomic data of normal, tumour, and co-occurring leukoplakia tissue triads drawn from patients with gingivobuccal oral cancer identifies signatures of tumour initiation and progression.

The Journal Of Pathology
Ghosh, Arnab A; Das, Chitrarpita C; Ghose, Sandip S; Maitra, Arindam A; Roy, Bidyut B; Majumder, Partha P PP; Biswas, Nidhan K NK
Publication Date: 2022-08

Variant appearance in text: KMT2C: S2S
PubMed Link: 35358331
Variant Present in the following documents:
  • PATH-257-593-s003.xlsx, sheet 2
View BVdb publication page



Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Frontiers In Cell And Developmental Biology
Zhu, Yi-Ming YM; Li, Qi Q; Gao, Xue X; Li, Yan-Fei YF; Liu, You-Li YL; Dai, Pu P; Li, Xiang-Ping XP
Publication Date: 2021

Variant appearance in text: KMT2C: S2=
PubMed Link: 34692690
Variant Present in the following documents:
  • Table_2.xlsx, sheet 3
View BVdb publication page