KMT2C c.1423C>T ;(p.H475Y)

Variant ID: 7-151949677-G-A

NM_170606.2(KMT2C):c.1423C>T;(p.H475Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


An integrated DNA and RNA variant detector identifies a highly conserved three base exon in the MAP4K5 kinase locus.

Rna Biology
Kurkowiak, Małgorzata M; Grasso, Giuseppa G; Faktor, Jakub J; Scheiblecker, Lisa L; Winniczuk, Małgorzata M; Mayordomo, Marcos Yebenes MY; O'Neill, J Robert JR; Oster, Bodil B; Vojtesek, Borek B; Al-Saadi, Ali A; Marek-Trzonkowska, Natalia N; Hupp, Ted R TR
Publication Date: 2021-12

Variant appearance in text: KMT2C: His475Tyr
PubMed Link: 34190025
Variant Present in the following documents:
  • Main text
  • KRNB_18_1932345.pdf
View BVdb publication page



Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy
Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y
Publication Date: 2021-02-10

Variant appearance in text: KMT2C: His475Tyr
PubMed Link: 33563892
Variant Present in the following documents:
  • 41392_2020_412_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page