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Gene | BRIP1 |
Variant | L844I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BRIP1 L844I does not lie within any known functional domains of the Brip1 protein (UniProt.org). L844I rescues mitomycin-induced DNA cross-linking damage similar to wild-type Brip1 in cell culture (PMID: 31822495), and therefore, is predicted to have no effect on Brip1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 L844I |
Transcript | NM_032043.3 |
gDNA | chr17:g.61693475G>T |
cDNA | c.2530C>A |
Protein | p.L844I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047436897.1 | chr17:g.61739258_61739260delCTGinsATC | c.2530_2532delCTGinsATC | p.L844I | RefSeq | GRCh38/hg38 |
XM_047436891.1 | chr17:g.61693475G>T | c.2530C>A | p.L844I | RefSeq | GRCh38/hg38 |
XM_011525335 | chr17:g.61693475G>T | c.2530C>A | p.L844I | RefSeq | GRCh38/hg38 |
NM_032043.3 | chr17:g.61693475G>T | c.2530C>A | p.L844I | RefSeq | GRCh38/hg38 |
XM_047436892.1 | chr17:g.61693475G>T | c.2530C>A | p.L844I | RefSeq | GRCh38/hg38 |
NM_032043.2 | chr17:g.61693475G>T | c.2530C>A | p.L844I | RefSeq | GRCh38/hg38 |
XM_011525335.3 | chr17:g.61693475G>T | c.2530C>A | p.L844I | RefSeq | GRCh38/hg38 |
XM_047436896.1 | chr17:g.61739258_61739260delCTGinsATC | c.2530_2532delCTGinsATC | p.L844I | RefSeq | GRCh38/hg38 |
XM_047436899.1 | chr17:g.61739258_61739260delCTGinsATC | c.2530_2532delCTGinsATC | p.L844I | RefSeq | GRCh38/hg38 |
NM_032043 | chr17:g.61693475G>T | c.2530C>A | p.L844I | RefSeq | GRCh38/hg38 |
XM_011525335.4 | chr17:g.61693475G>T | c.2530C>A | p.L844I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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