GK3
Basic information
Region (hg38): 4:165277807-165279704
Previous symbols: [ "GKP3", "GK3P" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GK3 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Key enzyme in the regulation of glycerol uptake and metabolism.;
- Pathway
- PPAR signaling pathway;Metabolism of lipids;Metabolism;CDP-diacylglycerol biosynthesis;Glycerophospholipid metabolism;Triglyceride biosynthesis;Triglyceride metabolism;glycerol degradation
(Consensus)
Recessive Scores
- pRec
- 0.444
Gene ontology
- Biological process
- glycerol metabolic process;triglyceride metabolic process;phosphorylation;glycerol catabolic process;glycerol-3-phosphate biosynthetic process
- Cellular component
- cytoplasm;mitochondrion;mitochondrial outer membrane
- Molecular function
- glycerol kinase activity;ATP binding