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| Gene | BRIP1 |
| Variant | S960T |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BRIP1 S960T lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). S960T confers a partial resistance to interstrand crosslinking agents compared to wild-type protein in BRIP1-deficient cells in culture (PMID: 33619228), 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 S960T |
| Transcript | NM_032043.3 |
| gDNA | chr17:g.61685862C>G |
| cDNA | c.2879G>C |
| Protein | p.S960T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011525335.4 | chr17:g.61685862C>G | c.2879G>C | p.S960T | RefSeq | GRCh38/hg38 |
| XM_011525335.3 | chr17:g.61685862C>G | c.2879G>C | p.S960T | RefSeq | GRCh38/hg38 |
| XM_047436891.1 | chr17:g.61685862C>G | c.2879G>C | p.S960T | RefSeq | GRCh38/hg38 |
| NM_032043.3 | chr17:g.61685862C>G | c.2879G>C | p.S960T | RefSeq | GRCh38/hg38 |
| NM_032043.2 | chr17:g.61685862C>G | c.2879G>C | p.S960T | RefSeq | GRCh38/hg38 |
| XM_047436892.1 | chr17:g.61685862C>G | c.2879G>C | p.S960T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BRIP1 S960T | unknown |