VRK1 Chromosome 14
VRK serine/threonine kinase 1
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What This Gene Does
This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008]
Associated Conditions (19)
Distal hereditary motor neuropathy associated with upper motor neuron signs
Distal spinal muscular atrophy
Neuronopathy
distal hereditary motor
autosomal recessive 10
Pontocerebellar hypoplasia type 1A
Congenital pontocerebellar hypoplasia type 1
Inborn genetic diseases
VRK1-related disorder
Amyotrophic lateral sclerosis
autosomal recessive
Spinal muscular atrophy
Hereditary breast ovarian cancer syndrome
Microcephaly-complex motor and sensory axonal neuropathy syndrome
EMG: neuropathic changes
Pontocerebellar hypoplasia type 1B
Pontoneocerebellar hypoplasia
Abnormality of the musculature
Juvenile amyotrophic lateral sclerosis
Key Variants
RS1172497555
Conflicting classifications of pathogenicity
Distal hereditary motor neuropathy associated with upper motor neuron signs, Distal spinal muscular atrophy, Neuronopathy
Health Risk
RS1334577291
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
Health Risk
RS139476915
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1A, Congenital pontocerebellar hypoplasia type 1, Distal spinal muscular atrophy
Health Risk
RS146113610
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Pontocerebellar hypoplasia type 1A, Inborn genetic diseases
Health Risk
RS147853760
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1A, Inborn genetic diseases, Pontocerebellar hypoplasia type 1A
Health Risk
RS1595676477
Conflicting classifications of pathogenicity
Microcephaly-complex motor and sensory axonal neuropathy syndrome, EMG: neuropathic changes, Pontocerebellar hypoplasia type 1A
Health Risk
RS1595676517
Conflicting classifications of pathogenicity
Distal hereditary motor neuropathy associated with upper motor neuron signs, Distal spinal muscular atrophy, Neuronopathy
Health Risk
RS2230532
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
Health Risk
RS375176918
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
Health Risk
RS387906830
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1A, Neuronopathy, distal hereditary motor
Health Risk
RS541660707
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1A, Congenital pontocerebellar hypoplasia type 1, Inborn genetic diseases
Health Risk
RS61736727
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1A, Inborn genetic diseases, Pontocerebellar hypoplasia type 1A
Health Risk
All Variants (84)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2139814734 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2139845849 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2504130934 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2504164846 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2504185136 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2504185145 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2504185348 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2504191241 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2504194635 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2504196928 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2504197072 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2504209855 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2504210475 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2504252312 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 1A |
| RS2504252353 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS752086581 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS761254060 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS772263867 | Health Risk | Pathogenic | Inborn genetic diseases, Pontocerebellar hypoplasia type 1A, Inborn genetic diseases |
| RS868010710 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS943810223 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS1223645705 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS1420939606 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Pontocerebellar hypoplasia type 1A, Neuronopathy |
| RS1428656431 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS1566721633 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 1A, Neuronopathy, distal hereditary motor |
| RS184887106 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 1A, Neuronopathy, distal hereditary motor |
| RS2139779014 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2504252308 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 1A, Neuronopathy, distal hereditary motor |
| RS371295780 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 1A, Neuronopathy, distal hereditary motor |
| RS762979613 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 1A, Neuronopathy, distal hereditary motor |
| RS772146380 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS772731615 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 1A, Juvenile amyotrophic lateral sclerosis, Neuronopathy |
| RS774877872 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 1A, Neuronopathy, distal hereditary motor |
| RS779282547 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 1A, Neuronopathy, distal hereditary motor |
| RS892468166 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |