Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | BRIP1 |
| Variant | R798* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | BRIP1 R798* results in a premature truncation of the Brip1 protein at amino acid 798 of 1249 (UniProt.org). R798* has not been characterized, however, due to the effects of other truncation mutations downstream of R798 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRIP1 mutant BRIP1 inact mut BRIP1 R798* |
| Transcript | NM_032043.3 |
| gDNA | chr17:g.61716051G>A |
| cDNA | c.2392C>T |
| Protein | p.R798* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047436891.1 | chr17:g.61716051G>A | c.2392C>T | p.R798* | RefSeq | GRCh38/hg38 |
| XM_047436900.1 | chr17:g.61716051G>A | c.2392C>T | p.R798* | RefSeq | GRCh38/hg38 |
| XM_047436892.1 | chr17:g.61716051G>A | c.2392C>T | p.R798* | RefSeq | GRCh38/hg38 |
| NM_032043.2 | chr17:g.61716051G>A | c.2392C>T | p.R798* | RefSeq | GRCh38/hg38 |
| NM_032043 | chr17:g.61716051G>A | c.2392C>T | p.R798* | RefSeq | GRCh38/hg38 |
| XM_011525335.3 | chr17:g.61716051G>A | c.2392C>T | p.R798* | RefSeq | GRCh38/hg38 |
| XM_011525335 | chr17:g.61716051G>A | c.2392C>T | p.R798* | RefSeq | GRCh38/hg38 |
| NM_032043.3 | chr17:g.61716051G>A | c.2392C>T | p.R798* | RefSeq | GRCh38/hg38 |
| XM_047436901.1 | chr17:g.61716051G>A | c.2392C>T | p.R798* | RefSeq | GRCh38/hg38 |
| XM_011525335.4 | chr17:g.61716051G>A | c.2392C>T | p.R798* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|