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| Gene | PALB2 |
| Variant | I676T |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | PALB2 I676T does not lie within any known functional domains of the Palb2 protein (UniProt.org). I676T results in homology-directed DNA repair activity similar to wild-type Palb2 in cultured cells (PMID: 33964450), and therefore, is predicted to have no effect on Palb2 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
PALB2 mutant PALB2 I676T |
| Transcript | NM_024675.4 |
| gDNA | chr16:g.23630127A>G |
| cDNA | c.2027T>C |
| Protein | p.I676T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407298.1 | chr16:g.23630127A>G | c.2027T>C | p.I676T | RefSeq | GRCh38/hg38 |
| NM_024675.3 | chr16:g.23630127A>G | c.2027T>C | p.I676T | RefSeq | GRCh38/hg38 |
| NM_024675.4 | chr16:g.23630127A>G | c.2027T>C | p.I676T | RefSeq | GRCh38/hg38 |
| NM_001407300.1 | chr16:g.23630127A>G | c.2027T>C | p.I676T | RefSeq | GRCh38/hg38 |
| NM_001407302.1 | chr16:g.23630127A>G | c.2027T>C | p.I676T | RefSeq | GRCh38/hg38 |
| NM_001407299.1 | chr16:g.23630127A>G | c.2027T>C | p.I676T | RefSeq | GRCh38/hg38 |
| NM_001407297.1 | chr16:g.23630127A>G | c.2027T>C | p.I676T | RefSeq | GRCh38/hg38 |
| NM_001407301.1 | chr16:g.23630127A>G | c.2027T>C | p.I676T | RefSeq | GRCh38/hg38 |
| XM_017023672.2 | chr16:g.23630127A>G | c.2027T>C | p.I676T | RefSeq | GRCh38/hg38 |
| XM_017023673.2 | chr16:g.23630127A>G | c.2027T>C | p.I676T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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