The KRT12 gene homepage

General information
Gene symbol KRT12
Gene name keratin 12
Chromosome 17
Chromosomal band q11-q12
Imprinted Unknown
Genomic reference NC_000017.10
Transcript reference NM_000223.3
Exon/intron information NM_000223.3 exon/intron table
Associated with diseases MECD, MECD1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 40
Unique public DNA variants reported 36
Individuals with public variants 124
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated February 26, 2024
Version KRT12:240226

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_000223.3.
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/BFSP2KRT12
HGNC 6414
Entrez Gene 3859
PubMed articles KRT12
OMIM - Gene 601687
OMIM - Diseases MECD1 (dystrophy, corneal, Meesmann, type 1)
HGMD KRT12
GeneCards KRT12
GeneTests KRT12
Orphanet KRT12


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010771 17 keratin 12 NM_000223.3 NP_000214.1 40


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