| Variant ID | 22363 |
|---|---|
| Entrez Gene ID | 5063 |
| Gene | PAK3 (GeneCards) |
| Location | hg19 X:110287255-110287255
hg38 X:111044027-111044027 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.110287255 G>A (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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.055297 (Deleterious) |
| FATHMM raw prediction score | 0.12203 (Tolerated) |
| Deleterious probability by DeFine | 0.4217 (Neutral) |
| Entrez Gene ID | 5063 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PAK3 (GeneCards) |
| Number of variants in PAK3 in this database | 1 (view all the variants) |
| Full name | p21 (RAC1) activated kinase 3 |
| Band | Xq23 |
| Other IDs | Vega: OTTHUMG00000022202 OMIM: 300142 HGNC: HGNC:8592 Ensembl: ENSG00000077264 |
| Other names | ARA, bPAK, MRX30, MRX47, OPHN3, PAK-3, PAK3beta, beta-PAK |
| Summary | The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of a non-syndromic form of X-linked intellectual disability. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2017] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |