| Variant ID | 19356 |
|---|---|
| Entrez Gene ID | 5579 |
| Gene | PRKCB (GeneCards) |
| Location | hg19 16:23883920-23883920
hg38 16:23872599-23872599 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.23883920 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| 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 | 0.056 |
| CADD Raw score (version 1.3) | 0.211823 (Deleterious) |
| FATHMM raw prediction score | 0.14398 (Tolerated) |
| Deleterious probability by DeFine | 0.4414 (Neutral) |
| Entrez Gene ID | 5579 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRKCB (GeneCards) |
| Number of variants in PRKCB in this database | 10 (view all the variants) |
| Full name | protein kinase C beta |
| Band | 16p12.2-p12.1 |
| Other IDs | Vega: OTTHUMG00000131615 OMIM: 176970 HGNC: HGNC:9395 Ensembl: ENSG00000166501 |
| Other names | PKCB, PRKCB1, PRKCB2, PKC-beta |
| Summary | Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |