| Variant ID | 7509 |
|---|---|
| Entrez Gene ID | 5924 |
| Gene | RASGRF2 (GeneCards) |
| Location | hg19 5:80359920-80359920
hg38 5:81064101-81064101 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.80359920 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0892 |
| CADD Raw score (version 1.3) | 0.18864 (Deleterious) |
| FATHMM raw prediction score | 0.10918 (Tolerated) |
| Deleterious probability by DeFine | 0.5027 (Deleterious) |
| Entrez Gene ID | 5924 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RASGRF2 (GeneCards) |
| Number of variants in RASGRF2 in this database | 5 (view all the variants) |
| Full name | Ras protein specific guanine nucleotide releasing factor 2 |
| Band | 5q14.1 |
| Other IDs | Vega: OTTHUMG00000119015 OMIM: 606614 HGNC: HGNC:9876 Ensembl: ENSG00000113319 |
| Other names | GRF2, RAS-GRF2 |
| Summary | RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 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; |