KMT2C c.2468T>A ;(p.I823N)

Variant ID: 7-151945051-A-T

NM_170606.2(KMT2C):c.2468T>A;(p.I823N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A high-throughput sequence analysis of Japanese patients revealed 11 candidate genes associated with type 1 autoimmune pancreatitis susceptibility.

Biochemistry And Biophysics Reports
Fujibayashi, Shugo S; Sasajima, Junpei J; Goto, Takuma T; Tanaka, Hiroki H; Kawabata, Hidemasa H; Fujii, Tsuneshi T; Nakamura, Kazumasa K; Chiba, Atsushi A; Yanagawa, Nobuyuki N; Moriichi, Kentaro K; Fujiya, Mikihiro M; Kohgo, Yutaka Y
Publication Date: 2016-07

Variant appearance in text: rs2838171
PubMed Link: 28955865
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2838171
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page