Bibliome.ai browser hg19
Search
About
Stats
FAQ
KMT2C c.646G>T ;(p.A216S)
Variant ID: 7-152008976-C-A
NM_170606.2(
KMT2C
):c.646G>T;(p.A216S)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Regulation of FXR transcriptional activity in health and disease: Emerging roles of FXR cofactors and post-translational modifications.
Biochimica Et Biophysica Acta
Kemper, Jongsook Kim JK
Publication Date: 2011-08
Variant appearance in text: MLL3: A216S
PubMed Link:
21130162
Variant Present in the following documents:
Main text
View BVdb publication page