| Variant ID | 13875 |
|---|---|
| Entrez Gene ID | 10579 |
| Gene | TACC2 (GeneCards) |
| Location | hg19 10:123748876-123748876
hg38 10:121989361-121989361 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.123748876 C>G (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.093564 (Deleterious) |
| FATHMM raw prediction score | 0.10457 (Tolerated) |
| Deleterious probability by DeFine | 0.2043 (Neutral) |
| Entrez Gene ID | 10579 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TACC2 (GeneCards) |
| Number of variants in TACC2 in this database | 3 (view all the variants) |
| Full name | transforming acidic coiled-coil containing protein 2 |
| Band | 10q26.13 |
| Other IDs | Vega: OTTHUMG00000019181 OMIM: 605302 HGNC: HGNC:11523 Ensembl: ENSG00000138162 |
| Other names | AZU-1, ECTACC |
| Summary | Transforming acidic coiled-coil proteins are a conserved family of centrosome- and microtubule-interacting proteins that are implicated in cancer. This gene encodes a protein that concentrates at centrosomes throughout the cell cycle. This gene lies within a chromosomal region associated with tumorigenesis. Expression of this gene is induced by erythropoietin and is thought to affect the progression of breast tumors. Several transcript variants encoding different isoforms have been found for this gene. [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; |