| Variant ID | 21132 |
|---|---|
| Entrez Gene ID | 128674 |
| Gene | PROKR2 (GeneCards) |
| Location | hg19 20:5372384-5372384
hg38 20:5391738-5391738 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.5372384 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3051 |
| CADD Raw score (version 1.3) | -0.044269 (Deleterious) |
| FATHMM raw prediction score | 0.09013 (Tolerated) |
| Deleterious probability by DeFine | 0.1857 (Neutral) |
| Entrez Gene ID | 128674 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PROKR2 (GeneCards) |
| Number of variants in PROKR2 in this database | 5 (view all the variants) |
| Full name | prokineticin receptor 2 |
| Band | 20p12.3 |
| Other IDs | Vega: OTTHUMG00000031800 OMIM: 607123 HGNC: HGNC:15836 Ensembl: ENSG00000101292 |
| Other names | HH3, KAL3, PKR2, GPRg2, GPR73b, GPR73L1, dJ680N4.3 |
| Summary | Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. [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; |