| Variant ID | 885 |
|---|---|
| Entrez Gene ID | 25780 |
| Gene | RASGRP3 (GeneCards) |
| Location | hg19 2:33748995-33748995
hg38 2:33523928-33523928 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.33748995 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 189 |
| Amino acid changes in protein | P > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.854 |
| CADD Raw score (version 1.3) | 3.460311 (Deleterious) |
| FATHMM raw prediction score | 0.96927 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.475 (Deleterious) |
| PROVEAN score | -7.58 (Deleterious) |
| MetaSVM score | -0.076 (Tolerated) |
| MetaLR score | 0.346 (Tolerated) |
| MCAP score | 0.045 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.51 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.153 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.999 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.439 |
| Deleterious probability by iFish2 | 0.5582 (Deleterious) |
| Deleterious probability by DeFine | 0.9191 (Deleterious) |
| Entrez Gene ID | 25780 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RASGRP3 (GeneCards) |
| Number of variants in RASGRP3 in this database | 4 (view all the variants) |
| Full name | RAS guanyl releasing protein 3 |
| Band | 2p22.3 |
| Other IDs | Vega: OTTHUMG00000152124 OMIM: 609531 HGNC: HGNC:14545 Ensembl: ENSG00000152689 |
| Other names | GRP3 |
| Summary | The protein encoded by this gene is a guanine nucleotide exchange factor that activates the oncogenes HRAS and RAP1A. Defects in this gene have been associated with systemic lupus erythematosus and several cancers. [provided by RefSeq, Mar 2017] |
| 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; |