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| Gene | BRIP1 |
| Variant | L717V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BRIP1 L717V does not lie within any known functional domains of the Brip1 protein (UniProt.org). L717V has not been characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
BRIP1 mutant BRIP1 L717V |
| Transcript | NM_032043.3 |
| gDNA | chr17:g.61744540G>C |
| cDNA | c.2149C>G |
| Protein | p.L717V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047436899.1 | chr17:g.61744540G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| NM_032043.2 | chr17:g.61744540G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| XM_047436891.1 | chr17:g.61744540G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| XM_017025201.1 | chr17:g.61686109G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| XM_011525335.3 | chr17:g.61744540G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| XM_011525335 | chr17:g.61744540G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| XM_017025200.1 | chr17:g.61686109G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| XM_047436892.1 | chr17:g.61744540G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| XM_017025200 | chr17:g.61686109G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| NM_032043 | chr17:g.61744540G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| XM_017025201 | chr17:g.61686109G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| NM_032043.3 | chr17:g.61744540G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| XM_047436901.1 | chr17:g.61744540G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| XM_047436896.1 | chr17:g.61744540G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| XM_011525335.4 | chr17:g.61744540G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| XM_047436897.1 | chr17:g.61744540G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| XM_047436900.1 | chr17:g.61744540G>C | c.2149C>G | p.L717V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BRIP1 L717V | unknown |