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Gene | PALB2 |
Variant | N497Mfs*64 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 N497Mfs*64 indicates a shift in the reading frame starting at amino acid 497 and terminating 64 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). N497Mfs*64 results in decreased homology-directed DNA repair activity in cultured cells (PMID: 33964450), and therefore, is predicted to lead to a loss of Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 N497Mfs*64 |
Transcript | NM_024675.4 |
gDNA | chr16:g.23635057delT |
cDNA | c.1490delA |
Protein | p.N497Mfs*64 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407299.1 | chr16:g.23635057delT | c.1490delA | p.N497Mfs*64 | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23635057delT | c.1490delA | p.N497Mfs*64 | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23635057delT | c.1490delA | p.N497Mfs*64 | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23635057delT | c.1490delA | p.N497Mfs*64 | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23635057delT | c.1490delA | p.N497Mfs*64 | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23635057delT | c.1490delA | p.N497Mfs*64 | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23635057delT | c.1490delA | p.N497Mfs*64 | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23635057delT | c.1490delA | p.N497Mfs*64 | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23635057delT | c.1490delA | p.N497Mfs*64 | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23635057delT | c.1490delA | p.N497Mfs*64 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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