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Gene | BRIP1 |
Variant | E1097* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | BRIP1 E1097* results in a premature truncation of the Brip1 protein at amino acid 1097 of 1249 (UniProt.org). E1097* has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 E1097* |
Transcript | NM_032043.3 |
gDNA | chr17:g.61683757C>A |
cDNA | c.3289G>T |
Protein | p.E1097* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011525337 | chr17:g.61683616C>A | c.3289G>T | p.E1097* | RefSeq | GRCh38/hg38 |
XM_011525335.3 | chr17:g.61683757C>A | c.3289G>T | p.E1097* | RefSeq | GRCh38/hg38 |
NM_032043.3 | chr17:g.61683757C>A | c.3289G>T | p.E1097* | RefSeq | GRCh38/hg38 |
XM_011525335.4 | chr17:g.61683757C>A | c.3289G>T | p.E1097* | RefSeq | GRCh38/hg38 |
XM_047436892.1 | chr17:g.61683757C>A | c.3289G>T | p.E1097* | RefSeq | GRCh38/hg38 |
XM_011525335 | chr17:g.61683757C>A | c.3289G>T | p.E1097* | RefSeq | GRCh38/hg38 |
XM_011525337.2 | chr17:g.61683616C>A | c.3289G>T | p.E1097* | RefSeq | GRCh38/hg38 |
NM_032043 | chr17:g.61683757C>A | c.3289G>T | p.E1097* | RefSeq | GRCh38/hg38 |
NM_032043.2 | chr17:g.61683757C>A | c.3289G>T | p.E1097* | RefSeq | GRCh38/hg38 |
XM_047436891.1 | chr17:g.61683757C>A | c.3289G>T | p.E1097* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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