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| Gene | PALB2 |
| Variant | G866V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PALB2 G866V lies within WD repeat 1 of the Palb2 protein (UniProt.org). G866V does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
PALB2 mutant PALB2 G866V |
| Transcript | NM_024675.4 |
| gDNA | chr16:g.23626387C>A |
| cDNA | c.2597G>T |
| Protein | p.G866V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_024675 | chr16:g.23626387C>A | c.2597G>T | p.G866V | RefSeq | GRCh38/hg38 |
| XM_017023673.2 | chr16:g.23626387C>A | c.2597G>T | p.G866V | RefSeq | GRCh38/hg38 |
| NM_001407300.1 | chr16:g.23626387C>A | c.2597G>T | p.G866V | RefSeq | GRCh38/hg38 |
| XM_017023672.2 | chr16:g.23626387C>A | c.2597G>T | p.G866V | RefSeq | GRCh38/hg38 |
| XM_017023673 | chr16:g.23626387C>A | c.2597G>T | p.G866V | RefSeq | GRCh38/hg38 |
| XM_017023672 | chr16:g.23626387C>A | c.2597G>T | p.G866V | RefSeq | GRCh38/hg38 |
| NM_001407299.1 | chr16:g.23626387C>A | c.2597G>T | p.G866V | RefSeq | GRCh38/hg38 |
| NM_001407301.1 | chr16:g.23626387C>A | c.2597G>T | p.G866V | RefSeq | GRCh38/hg38 |
| NM_024675.4 | chr16:g.23626387C>A | c.2597G>T | p.G866V | RefSeq | GRCh38/hg38 |
| NM_024675.3 | chr16:g.23626387C>A | c.2597G>T | p.G866V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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