| Variant ID | 2811 |
|---|---|
| Entrez Gene ID | 23254 |
| Gene | KAZN (GeneCards) |
| Location | hg19 1:14976105-14976105
hg38 1:14649609-14649609 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.14976105 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0605 |
| CADD Raw score (version 1.3) | 0.088135 (Deleterious) |
| FATHMM raw prediction score | 0.13895 (Tolerated) |
| Deleterious probability by DeFine | 0.4272 (Neutral) |
| Entrez Gene ID | 23254 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KAZN (GeneCards) |
| Number of variants in KAZN in this database | 5 (view all the variants) |
| Full name | kazrin, periplakin interacting protein |
| Band | 1p36.21 |
| Other IDs | Vega: OTTHUMG00000002042 HGNC: HGNC:29173 Ensembl: ENSG00000189337 |
| Other names | KAZ |
| Summary | This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011] |
| 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; |