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Gene | BRIP1 |
Variant | L679F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRIP1 L679F does not lie within any known functional domains of the Brip1 protein (UniProt.org). L679F has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 L679F |
Transcript | NM_032043.3 |
gDNA | chr17:g.61776463G>A |
cDNA | c.2035C>T |
Protein | p.L679F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_032043.2 | chr17:g.61776463G>A | c.2035C>T | p.L679F | RefSeq | GRCh38/hg38 |
NM_032043.3 | chr17:g.61776463G>A | c.2035C>T | p.L679F | RefSeq | GRCh38/hg38 |
XM_011525335.4 | chr17:g.61776463G>A | c.2035C>T | p.L679F | RefSeq | GRCh38/hg38 |
XM_011525335 | chr17:g.61776463G>A | c.2035C>T | p.L679F | RefSeq | GRCh38/hg38 |
XM_011525335.3 | chr17:g.61776463G>A | c.2035C>T | p.L679F | RefSeq | GRCh38/hg38 |
XM_047436901.1 | chr17:g.61776463G>A | c.2035C>T | p.L679F | RefSeq | GRCh38/hg38 |
NM_032043 | chr17:g.61776463G>A | c.2035C>T | p.L679F | RefSeq | GRCh38/hg38 |
XM_047436899.1 | chr17:g.61776463G>A | c.2035C>T | p.L679F | RefSeq | GRCh38/hg38 |
XM_047436897.1 | chr17:g.61776463G>A | c.2035C>T | p.L679F | RefSeq | GRCh38/hg38 |
XM_047436896.1 | chr17:g.61776463G>A | c.2035C>T | p.L679F | RefSeq | GRCh38/hg38 |
XM_047436891.1 | chr17:g.61776463G>A | c.2035C>T | p.L679F | RefSeq | GRCh38/hg38 |
XM_047436892.1 | chr17:g.61776463G>A | c.2035C>T | p.L679F | RefSeq | GRCh38/hg38 |
XM_047436900.1 | chr17:g.61776463G>A | c.2035C>T | p.L679F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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