| Variant ID | 2154 |
|---|---|
| Entrez Gene ID | 4921 |
| Gene | DDR2 (GeneCards) |
| Location | hg19 1:162606617-162606617
hg38 1:162636827-162636827 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.162606617 T>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2652 |
| CADD Raw score (version 1.3) | 2.258598 (Deleterious) |
| FATHMM raw prediction score | 0.53108 (Tolerated) |
| Deleterious probability by DeFine | 0.1408 (Neutral) |
| Entrez Gene ID | 4921 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DDR2 (GeneCards) |
| Number of variants in DDR2 in this database | 3 (view all the variants) |
| Full name | discoidin domain receptor tyrosine kinase 2 |
| Band | 1q23.3 |
| Other IDs | Vega: OTTHUMG00000034423 OMIM: 191311 HGNC: HGNC:2731 Ensembl: ENSG00000162733 |
| Other names | TKT, MIG20a, NTRKR3, TYRO10 |
| Summary | This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor that activates signal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling. This protein is expressed in numerous cell types and may alos be involved in wound repair and regulate tumor growth and invasiveness. Mutations in this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017] |
| Individual ID | 29217584.10 (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; |