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Gene | PALB2 |
Variant | K30N |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PALB2 K30N lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). K30N results in homology-directed DNA repair (PMID: 28319063, PMID: 31586400, PMID: 33964450) and BRCA1 binding similar to wild-type Palb2, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 28319063, PMID: 31586400). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 K30N |
Transcript | NM_024675.4 |
gDNA | chr16:g.23638088C>G |
cDNA | c.90G>C |
Protein | p.K30N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023673.2 | chr16:g.23638088C>G | c.90G>C | p.K30N | RefSeq | GRCh38/hg38 |
NM_001407313.1 | chr16:g.23630276T>G | c.90A>C | p.K30N | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23638088C>G | c.90G>C | p.K30N | RefSeq | GRCh38/hg38 |
NM_001407312.1 | chr16:g.23630276T>G | c.90A>C | p.K30N | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23638088C>G | c.90G>C | p.K30N | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23638088C>G | c.90G>C | p.K30N | RefSeq | GRCh38/hg38 |
NM_001407296.1 | chr16:g.23637911T>G | c.90A>C | p.K30N | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23638088C>G | c.90G>C | p.K30N | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23638088C>G | c.90G>C | p.K30N | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23638088C>G | c.90G>C | p.K30N | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23638088C>G | c.90G>C | p.K30N | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23638088C>G | c.90G>C | p.K30N | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23638088C>G | c.90G>C | p.K30N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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