The KRT74 gene homepage

General information
Gene symbol KRT74
Gene name keratin 74
Chromosome 12
Chromosomal band q13.13
Imprinted Unknown
Genomic reference NG_012321.1
Transcript reference NM_175053.3
Exon/intron information NM_175053.3 exon/intron table
Associated with diseases ADWH, ECTD-7, HYPT-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 17
Unique public DNA variants reported 17
Individuals with public variants 9
Hidden variants 3
Download all this gene's data Download all data
Notes Establishment of this LSDB was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created June 24, 2010
Date last updated September 15, 2020
Version KRT74:200915

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_175053.3.
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
External URL Orphanet
Human Intermediate Filament Database
HGNC 28929
Entrez Gene 121391
PubMed articles KRT74
OMIM - Gene 608248
OMIM - Diseases ADWH (woolly hair, autosomal dominant (ADWH))
ECTD-7 (dysplasia, ectodermal, type 7, hair/nail (ECTD-7))
GeneCards KRT74
GeneTests KRT74
Orphanet KRT74

Active transcripts




NCBI ID     

NCBI Protein ID     

00010805 12 keratin 74 NM_175053.3 NP_778223.2 17

Copyright & disclaimer
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