| Variant ID | 10425 |
|---|---|
| Entrez Gene ID | 7434 |
| Gene | VIPR2 (GeneCards) |
| Location | hg19 7:158928246-158928246
hg38 7:159135555-159135555 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.158928246 G>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7803 |
| CADD Raw score (version 1.3) | -1.01343 (Deleterious) |
| FATHMM raw prediction score | 0.04246 (Tolerated) |
| Deleterious probability by DeFine | 0.1428 (Neutral) |
| Entrez Gene ID | 7434 (NCBI Gene) |
|---|---|
| Official Gene Symbol | VIPR2 (GeneCards) |
| Number of variants in VIPR2 in this database | 1 (view all the variants) |
| Full name | vasoactive intestinal peptide receptor 2 |
| Band | 7q36.3 |
| Other IDs | Vega: OTTHUMG00000151446 OMIM: 601970 HGNC: HGNC:12695 Ensembl: ENSG00000106018 |
| Other names | VPAC2, VPAC2R, VIP-R-2, VPCAP2R, PACAP-R3, DUP7q36.3, PACAP-R-3, C16DUPq36.3 |
| Summary | This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. [provided by RefSeq, Aug 2011] |
| 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; |