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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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