GENE REFERENCE / HGNC:12718

VRK1

VRK serine/threonine kinase 1

protein-coding gene14q32.2Gene information

What does this gene do?

The VRK1 gene provides instructions for making a protein called VRK serine/threonine kinase 1. This protein is active in cells throughout the body.

VRK serine/threonine kinase 1 plays a critical role in directing cell growth and division. This protein regulates several transcription factors, which are proteins that control the activity of genes by attaching (binding) to specific regions of DNA. VRK serine/threonine kinase 1 has a particularly important role in regulating a transcription factor called p53 (which is produced from the TP53 gene). The p53 protein repairs damaged DNA, regulates cell division, and prevents the formation of cancerous tumors. VRK serine/threonine kinase 1 stabilizes and activates the p53 protein and controls the levels of p53 in the nucleus.

Studies suggest that VRK serine/threonine kinase 1 has several additional functions. This protein is involved in the assembly of the nuclear envelope, which is a structure that surrounds the nucleus and acts as a barrier between the nucleus and the rest of the cell. The nuclear envelope protects the DNA contained in the nucleus and regulates the movement of molecules into and out of the nucleus. VRK serine/threonine kinase 1 is also thought to play a role in the organization of chromatin. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. Both the assembly of the nuclear envelope and the proper organization of chromatin are necessary for normal cell division.

Researchers speculate that VRK serine/threonine kinase 1 may be involved in the development and maintenance of the nervous system, but its role is not well understood.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2014-11.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 644
Submissions for variants in or overlapping this gene: 976
Submissions explicitly reporting this gene: 943
Alleles reported pathogenic / likely pathogenic: 130
VariationIDs with uncertain significance: 185
VariationIDs with conflicting classifications: 17

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about VRK1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 130 alleles in VRK1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in VRK1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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