Gene
VRK1
VRK serine/threonine kinase 1
- HGNC 12718↗(opens in a new tab)
- Ensembl gene ENSG00000100749↗(opens in a new tab)
- NCBI Gene 7443↗(opens in a new tab)
Summary
- Cytogenetic location
- 14q32.2
- Coordinates
- Chromosome 14: 96,797,382–96,881,609 (GRCh38)
- Exons
- 13 exons across 84.2 kb
- Protein
- 396 amino acids
- MANE Select transcript
- ENST00000216639.8NM_003384.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Charcot-Marie-Tooth Disease
- Distal Hereditary Motor Neuropathy
Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.
- 1 GenCC submitter rates it definitive or strong
Spinal Muscular Atrophy
A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care
Broader groupings
Intellectual Disability
One of 233 genes linked to it
- 5 GenCC submitters rate it definitive or strong
How VRK1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.7 kb of the gene's 84.2 kb; 1,191 of those bases code for the protein.
How a genome test reads VRK1
107
positions in VRK1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 84.2 kb of VRK1, introns included, not only the 1.7 kb of exons.
Genes linked to the same conditions
- DYNC1H1dynein cytoplasmic 1 heavy chain 1Shares 3 conditions
- ATP7AATPase copper transporting alphaShares 2 conditions
- BSCL2BSCL2 lipid droplet biogenesis associated, seipinShares 2 conditions
- DCTN1dynactin subunit 1Shares 2 conditions
- DNAJB2DnaJ heat shock protein family (Hsp40) member B2Shares 2 conditions
- EMILIN1elastin microfibril interfacer 1Shares 2 conditions
- EXOSC3exosome component 3Shares 2 conditions
- EXOSC8exosome component 8Shares 2 conditions
- FBXO38F-box protein 38Shares 2 conditions
- GARS1glycyl-tRNA synthetase 1Shares 2 conditions
- HSPB8heat shock protein family B (small) member 8Shares 2 conditions
- IGHMBP2immunoglobulin mu DNA binding protein 2Shares 2 conditions
Traits linked to VRK1
The Human Phenotype Ontology lists these as features of the rare conditions VRK1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Brisk reflexes
- Decreased number of peripheral myelinated nerve fibers
- Difficulty sleeping
- Motor axonal neuropathy
- Motor delay
- Muscle twitch
- Small cerebellum
Show 26 more traits
- Absent/small cerebellum
- Decreased reflex response
- Degeneration of anterior horn cells
- Global developmental delay
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Demyelinating peripheral neuropathy
- Hand tremor
- Hypoplasia of the pons
- Intellectual disability, mild
- Lateral ventricle dilatation
- Limb ataxia
- Nerve damage causing decreased feeling and movement
- Sensory axonal neuropathy
- Simplified gyral pattern
- Babinski sign
- Cerebellar cyst
- Delayed ability to roll over
- Delayed ability to sit
- Epilepsy
- Increased reflexes
- Peripheral axonal neuropathy
- Thin corpus callosum
- Basal ganglia gliosis
- Hypoplasia of the ventral pons
- Intellectual disability
- Neuronal loss in basal ganglia
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). VRK1 gene: VRK serine/threonine kinase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/vrk1
Dante Labs. VRK1 gene: VRK serine/threonine kinase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/vrk1
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