The MED23 gene homepage

General information
Gene symbol MED23
Gene name mediator complex subunit 23
Chromosome 6
Chromosomal band q22.33-q24.1
Imprinted Unknown
Genomic reference NG_031860.1
Transcript reference NM_004830.3, NM_015979.3
Exon/intron information NM_004830.3 exon/intron table, NM_015979.3 exon/intron table
Associated with diseases ID, MRT18
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 39
Unique public DNA variants reported 29
Individuals with public variants 40
Hidden variants 7
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated February 26, 2024
Version MED23:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004830.3, NM_015979.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/MED23
HGNC 2372
Entrez Gene 9439
PubMed articles MED23
OMIM - Gene 605042
OMIM - Diseases MRT18 (mental retardation, autosomal recessive, type 18 (MRT-18))
HGMD MED23
GeneCards MED23
GeneTests MED23
Orphanet MED23


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025352 6 transcript variant 2 NM_015979.3 NP_057063.2 37
00025828 6 transcript variant 1 NM_004830.3 NP_004821.2 28


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