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| Gene | PALB2 |
| Variant | D219G |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PALB2 D219G lies within the DNA-binding and BRCA1-interacting regions of the Palb2 protein (UniProt.org). D219G has been identified in sequencing studies (PMID: 23935836, PMID: 20122277, PMID: 26283626), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
PALB2 mutant PALB2 D219G |
| Transcript | NM_024675.4 |
| gDNA | chr16:g.23635890T>C |
| cDNA | c.656A>G |
| Protein | p.D219G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017023672 | chr16:g.23635890T>C | c.656A>G | p.D219G | RefSeq | GRCh38/hg38 |
| XM_017023673 | chr16:g.23635890T>C | c.656A>G | p.D219G | RefSeq | GRCh38/hg38 |
| XM_017023672.2 | chr16:g.23635890T>C | c.656A>G | p.D219G | RefSeq | GRCh38/hg38 |
| XM_017023673.2 | chr16:g.23635890T>C | c.656A>G | p.D219G | RefSeq | GRCh38/hg38 |
| NM_001407297.1 | chr16:g.23635890T>C | c.656A>G | p.D219G | RefSeq | GRCh38/hg38 |
| NM_001407301.1 | chr16:g.23635890T>C | c.656A>G | p.D219G | RefSeq | GRCh38/hg38 |
| NM_024675 | chr16:g.23635890T>C | c.656A>G | p.D219G | RefSeq | GRCh38/hg38 |
| NM_024675.4 | chr16:g.23635890T>C | c.656A>G | p.D219G | RefSeq | GRCh38/hg38 |
| NM_001407302.1 | chr16:g.23635890T>C | c.656A>G | p.D219G | RefSeq | GRCh38/hg38 |
| NM_001407298.1 | chr16:g.23635890T>C | c.656A>G | p.D219G | RefSeq | GRCh38/hg38 |
| NM_001407299.1 | chr16:g.23635890T>C | c.656A>G | p.D219G | RefSeq | GRCh38/hg38 |
| NM_024675.3 | chr16:g.23635890T>C | c.656A>G | p.D219G | RefSeq | GRCh38/hg38 |
| NM_001407300.1 | chr16:g.23635890T>C | c.656A>G | p.D219G | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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