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@jax.org
Gene | BRIP1 |
Variant | I782V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRIP1 I782V does not lie within any known functional domains of the Brip1 protein (UniProt.org). I782V partially rescues mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495), 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 I782V |
Transcript | NM_032043.3 |
gDNA | chr17:g.61743048T>C |
cDNA | c.2344A>G |
Protein | p.I782V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047436892.1 | chr17:g.61743048T>C | c.2344A>G | p.I782V | RefSeq | GRCh38/hg38 |
XM_047436899.1 | chr17:g.61743048T>C | c.2344A>G | p.I782V | RefSeq | GRCh38/hg38 |
XM_047436901.1 | chr17:g.61743048T>C | c.2344A>G | p.I782V | RefSeq | GRCh38/hg38 |
XM_047436896.1 | chr17:g.61743048T>C | c.2344A>G | p.I782V | RefSeq | GRCh38/hg38 |
NM_032043.3 | chr17:g.61743048T>C | c.2344A>G | p.I782V | RefSeq | GRCh38/hg38 |
XM_047436900.1 | chr17:g.61743048T>C | c.2344A>G | p.I782V | RefSeq | GRCh38/hg38 |
XM_047436897.1 | chr17:g.61743048T>C | c.2344A>G | p.I782V | RefSeq | GRCh38/hg38 |
XM_011525335.4 | chr17:g.61743048T>C | c.2344A>G | p.I782V | RefSeq | GRCh38/hg38 |
XM_011525335 | chr17:g.61743048T>C | c.2344A>G | p.I782V | RefSeq | GRCh38/hg38 |
NM_032043 | chr17:g.61743048T>C | c.2344A>G | p.I782V | RefSeq | GRCh38/hg38 |
NM_032043.2 | chr17:g.61743048T>C | c.2344A>G | p.I782V | RefSeq | GRCh38/hg38 |
XM_011525335.3 | chr17:g.61743048T>C | c.2344A>G | p.I782V | RefSeq | GRCh38/hg38 |
XM_047436891.1 | chr17:g.61743048T>C | c.2344A>G | p.I782V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|