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Gene | PALB2 |
Variant | A1025T |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PALB2 A1025T lies within WD repeat 4 of the palb2 protein (UniProt.org). A1025T results in homologous repair activity similar to wild-type Palb2 in culture (PMID: 31636395, PMID: 33964450), BRCA2-binding similar to wild-type in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 A1025T |
Transcript | NM_024675.4 |
gDNA | chr16:g.23621402C>T |
cDNA | c.3073G>A |
Protein | p.A1025T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407301.1 | chr16:g.23621402C>T | c.3073G>A | p.A1025T | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23621402C>T | c.3073G>A | p.A1025T | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23621402C>T | c.3073G>A | p.A1025T | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23621402C>T | c.3073G>A | p.A1025T | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23621402C>T | c.3073G>A | p.A1025T | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23607979C>T | c.3073G>A | p.A1025T | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23621402C>T | c.3073G>A | p.A1025T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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