| Variant ID | 20133 |
|---|---|
| Entrez Gene ID | 8313 |
| Gene | AXIN2 (GeneCards) |
| Location | hg19 17:63596586-63596586
hg38 17:65600468-65600468 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.63596586 T>C (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.4484 |
| CADD Raw score (version 1.3) | 1.800952 (Deleterious) |
| FATHMM raw prediction score | 0.96818 (Tolerated) |
| Deleterious probability by DeFine | 0.7868 (Deleterious) |
| Entrez Gene ID | 8313 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AXIN2 (GeneCards) |
| Number of variants in AXIN2 in this database | 2 (view all the variants) |
| Full name | axin 2 |
| Band | 17q24.1 |
| Other IDs | Vega: OTTHUMG00000179353 OMIM: 604025 HGNC: HGNC:904 Ensembl: ENSG00000168646 |
| Other names | AXIL, ODCRCS |
| Summary | The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |