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Gene | PALB2 |
Variant | K18R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 K18R lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). K18R demonstrates subcellular localization, BRCA1 binding, recruitment to DNA damage sites, and RAD51 foci formation similar to wild-type Palb2 (PMID: 31586400, PMID: 28319063), and retains homologous repair activity in culture (PMID: 31586400, PMID: 33964450), but results in decreased homologous repair activity in culture in another study (PMID: 28319063), and fails to rescue PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, its effect on Palb2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 K18R |
Transcript | NM_024675.4 |
gDNA | chr16:g.23638125T>C |
cDNA | c.53A>G |
Protein | p.K18R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407300.1 | chr16:g.23638125T>C | c.53A>G | p.K18R | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23638125T>C | c.53A>G | p.K18R | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23638125T>C | c.53A>G | p.K18R | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23638125T>C | c.53A>G | p.K18R | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23638125T>C | c.53A>G | p.K18R | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23638125T>C | c.53A>G | p.K18R | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23638125T>C | c.53A>G | p.K18R | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23638125T>C | c.53A>G | p.K18R | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23638125T>C | c.53A>G | p.K18R | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23638125T>C | c.53A>G | p.K18R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PALB2 K18R | unknown |