KMT2C c.1148G>A ;(p.W383*)

Variant ID: 7-151962159-C-T

NM_170606.2(KMT2C):c.1148G>A;(p.W383*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Cheng, Wen-Yan WY; Li, Jian-Feng JF; Zhu, Yong-Mei YM; Lin, Xiang-Jie XJ; Wen, Li-Jun LJ; Zhang, Fan F; Zhang, Yu-Liang YL; Zhao, Ming M; Fang, Hai H; Wang, Sheng-Yue SY; Lin, Xiao-Jing XJ; Qiao, Niu N; Yin, Wei W; Zhang, Jia-Nan JN; Dai, Yu-Ting YT; Jiang, Lu L; Sun, Xiao-Jian XJ; Xu, Yi Y; Zhang, Tong-Tong TT; Chen, Su-Ning SN; Zhu, Hong-Hu HH; Chen, Zhu Z; Jin, Jie J; Wu, De-Pei DP; Shen, Yang Y; Chen, Sai-Juan SJ
Publication Date: 2022-12-06

Variant appearance in text: KMT2C: W383*
PubMed Link: 36442087
Variant Present in the following documents:
  • pnas.2211429119.sd02.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: KMT2C: W383X
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Longitudinal profiling of circulating tumour DNA for tracking tumour dynamics in pancreatic cancer.

Bmc Cancer
Sivapalan, Lavanya L; Thorn, Graeme J GJ; Gadaleta, Emanuela E; Kocher, Hemant M HM; Ross-Adams, Helen H; Chelala, Claude C
Publication Date: 2022-04-07

Variant appearance in text: KMT2C: W383*
PubMed Link: 35392854
Variant Present in the following documents:
  • 12885_2022_9387_MOESM1_ESM.pdf
View BVdb publication page



Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Peerj
Niyomnaitham, Suvimol S; Parinyanitikul, Napa N; Roothumnong, Ekkapong E; Jinda, Worapoj W; Samarnthai, Norasate N; Atikankul, Taywin T; Suktitipat, Bhoom B; Thongnoppakhun, Wanna W; Limwongse, Chanin C; Pithukpakorn, Manop M
Publication Date: 2019

Variant appearance in text: KMT2C: W383*
PubMed Link: 30828495
Variant Present in the following documents:
  • peerj-07-6501-s001.xlsx, sheet 3
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: MLL3: W383*
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
View BVdb publication page