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Gene | BRIP1 |
Variant | A551V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRIP1 A551V does not lie within any known functional domains of the Brip1 protein (UniProt.org). A551V has not been characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 A551V |
Transcript | NM_032043.3 |
gDNA | chr17:g.61780982G>A |
cDNA | c.1652C>T |
Protein | p.A551V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_032043.2 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525337.2 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_047436904.1 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_047436899.1 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_047436897.1 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525332.4 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525337 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525334 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525341.3 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525341.4 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525333.4 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525340.4 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_047436903.1 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_047436900.1 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525336 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_047436895.1 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525336.2 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
NM_032043 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525335.3 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525339.3 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_047436894.1 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525334.3 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525340.3 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_047436891.1 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
NM_032043.3 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525339.4 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_047436896.1 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525333.3 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525335.4 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_047436892.1 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525334.2 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_047436902.1 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_047436893.1 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525332 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525339 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_047436901.1 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525335 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525340 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525332.3 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525333 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525341 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
XM_011525336.3 | chr17:g.61780982G>A | c.1652C>T | p.A551V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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