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Gene | BRIP1 |
Variant | E718V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRIP1 E718V does not lie within any known functional domains of the Brip1 protein (UniProt.org). E718V has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 E718V |
Transcript | NM_032043.3 |
gDNA | chr17:g.61744536T>A |
cDNA | c.2153A>T |
Protein | p.E718V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047436901.1 | chr17:g.61744536T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
NM_032043.2 | chr17:g.61744536T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
XM_011525335 | chr17:g.61744536T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
NM_032043.3 | chr17:g.61744536T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
XM_047436900.1 | chr17:g.61744536T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
XM_017025200.1 | chr17:g.61686105T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
XM_047436899.1 | chr17:g.61744536T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
XM_017025201 | chr17:g.61686105T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
XM_017025201.1 | chr17:g.61686105T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
XM_047436892.1 | chr17:g.61744536T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
XM_047436891.1 | chr17:g.61744536T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
XM_011525335.3 | chr17:g.61744536T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
NM_032043 | chr17:g.61744536T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
XM_011525335.4 | chr17:g.61744536T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
XM_017025200 | chr17:g.61686105T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
XM_047436897.1 | chr17:g.61744536T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
XM_047436896.1 | chr17:g.61744536T>A | c.2153A>T | p.E718V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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