| Variant ID | 898 |
|---|---|
| Entrez Gene ID | 55697 |
| Gene | VAC14 (GeneCards) |
| Location | hg19 16:70726756-70726756
hg38 16:70692853-70692853 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000016.9:g.70726756 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 718 |
| Amino acid changes in protein | Q > Q |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.8096 |
| CADD Raw score (version 1.3) | 1.679543 (Deleterious) |
| FATHMM raw prediction score | 0.97894 (Tolerated) |
| Deleterious probability by DeFine | 0.9407 (Deleterious) |
| Entrez Gene ID | 55697 (NCBI Gene) |
|---|---|
| Official Gene Symbol | VAC14 (GeneCards) |
| Number of variants in VAC14 in this database | 1 (view all the variants) |
| Full name | Vac14, PIKFYVE complex component |
| Band | 16q22.1-q22.2 |
| Other IDs | Vega: OTTHUMG00000137583 OMIM: 604632 HGNC: HGNC:25507 Ensembl: ENSG00000103043 |
| Other names | TRX, TAX1BP2, ArPIKfyve |
| Summary | This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |