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| Gene | BRIP1 |
| Variant | R173C |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BRIP1 R173C lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). R173C results in impaired nuclear translocation in cultured cells (PMID: 12569564), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRIP1 mutant BRIP1 R173C |
| Transcript | NM_032043.3 |
| gDNA | chr17:g.61847211G>A |
| cDNA | c.517C>T |
| Protein | p.R173C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047436901.1 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_047436902.1 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525339 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525333 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525340.3 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525336.2 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_047436903.1 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525336 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| NM_032043.3 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525341.3 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525334.3 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| NM_032043 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_047436899.1 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525332 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_047436900.1 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525335.3 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_047436897.1 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525335 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_047436895.1 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525336.3 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_047436893.1 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525340 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_047436894.1 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525334 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525333.3 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| NM_032043.2 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_047436891.1 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525335.4 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525340.4 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525341.4 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525337 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525332.3 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_047436904.1 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525332.4 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525339.4 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_047436892.1 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525339.3 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525334.2 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_047436896.1 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525341 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525337.2 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| XM_011525333.4 | chr17:g.61847211G>A | c.517C>T | p.R173C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|