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Gene | PALB2 |
Variant | Q775* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 Q775* results in a premature truncation of the Palb2 protein at amino acid 775 of 1186 (UniProt.org). Q775* confers a loss of function to the Palb2 protein as demonstrated by loss of Poln foci formation (PMID: 24485656), and decreased Brca2 and Rad51 binding and reduced Rad51 activation in cultured cells (PMID: 28158555). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 Q775* |
Transcript | NM_024675.4 |
gDNA | chr16:g.23629831G>A |
cDNA | c.2323C>T |
Protein | p.Q775* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023672 | chr16:g.23629831G>A | c.2323C>T | p.Q775* | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23629831G>A | c.2323C>T | p.Q775* | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23629831G>A | c.2323C>T | p.Q775* | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23629831G>A | c.2323C>T | p.Q775* | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23629831G>A | c.2323C>T | p.Q775* | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23629831G>A | c.2323C>T | p.Q775* | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23629831G>A | c.2323C>T | p.Q775* | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23629831G>A | c.2323C>T | p.Q775* | RefSeq | GRCh38/hg38 |
NM_001407296.1 | chr16:g.23629771G>A | c.2323C>T | p.Q775* | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23629831G>A | c.2323C>T | p.Q775* | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23629831G>A | c.2323C>T | p.Q775* | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23629831G>A | c.2323C>T | p.Q775* | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23629831G>A | c.2323C>T | p.Q775* | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23629831G>A | c.2323C>T | p.Q775* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PALB2 Q775* | loss of function | PARP Inhibitor (Pan) |