The NEK8 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol NEK8
Gene name NIMA-related kinase 8
Chromosome 17
Chromosomal band q11.1
Imprinted Unknown
Genomic reference NG_012263.1
Transcript reference NM_178170.2
Exon/intron information NM_178170.2 exon/intron table
Associated with diseases NPHP9, RHPD2
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 36
Individuals with public variants 1
Hidden variants 2
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created July 13, 2012
Date last updated May 09, 2022
Version NEK8:220509

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_178170.2.
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/NEK8
HGNC 13387
Entrez Gene 284086
PubMed articles NEK8
OMIM - Gene 609799
OMIM - Diseases NPHP9 (nephronophthisis, type 9 (NPHP-9))
RHPD2 (Renal-hepatic-pancreatic dysplasia 2)
HGMD NEK8
GeneCards NEK8
GeneTests NEK8
Orphanet NEK8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014472 17 NIMA (never in mitosis gene a)- related kinase 8 NM_178170.2 NP_835464.1 39


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