| Variant ID | 7864 |
|---|---|
| Entrez Gene ID | 10146 |
| Gene | G3BP1 (GeneCards) |
| Location | hg19 5:151197893-151197893
hg38 5:151818332-151818332 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.151197893 C>T (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 | -0.0114 |
| CADD Raw score (version 1.3) | 0.271026 (Deleterious) |
| FATHMM raw prediction score | 0.14818 (Tolerated) |
| Deleterious probability by DeFine | 0.4902 (Neutral) |
| Entrez Gene ID | 10146 (NCBI Gene) |
|---|---|
| Official Gene Symbol | G3BP1 (GeneCards) |
| Number of variants in G3BP1 in this database | 3 (view all the variants) |
| Full name | G3BP stress granule assembly factor 1 |
| Band | 5q33.1 |
| Other IDs | Vega: OTTHUMG00000130123 OMIM: 608431 HGNC: HGNC:30292 Ensembl: ENSG00000145907 |
| Other names | G3BP, HDH-VIII |
| Summary | This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.08 (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; |