| Variant ID | 1071 |
|---|---|
| Entrez Gene ID | 9181 |
| Gene | ARHGEF2 (GeneCards) |
| Location | hg19 1:155931498-155931498
hg38 1:155961707-155961707 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.155931498 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 446 |
| Amino acid changes in protein | I > I |
| 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 | 1.3312 |
| CADD Raw score (version 1.3) | 1.235889 (Deleterious) |
| FATHMM raw prediction score | 0.89044 (Tolerated) |
| Deleterious probability by DeFine | 0.8541 (Deleterious) |
| Entrez Gene ID | 9181 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARHGEF2 (GeneCards) |
| Number of variants in ARHGEF2 in this database | 1 (view all the variants) |
| Full name | Rho/Rac guanine nucleotide exchange factor 2 |
| Band | 1q22 |
| Other IDs | Vega: OTTHUMG00000017464 OMIM: 607560 HGNC: HGNC:682 Ensembl: ENSG00000116584 |
| Other names | GEF, P40, GEFH1, LFP40, GEF-H1, NEDMHM |
| Summary | Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |