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Gene | PALB2 |
Variant | I1093T |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PALB2 I1093T lies within WD repeat 5 of the palb2 protein (UniProt.org). I1093T results in homologous repair activity similar to wild-type protein in culture (PMID: 31636395), demonstrates subcellular localization and recruitment to dsDNA damage sites comparable to wild-type Palb2 in culture, results in BRCA2 binding similar to wild-type protein 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 I1093T |
Transcript | NM_024675.4 |
gDNA | chr16:g.23607936A>G |
cDNA | c.3278T>C |
Protein | p.I1093T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.3 | chr16:g.23607936A>G | c.3278T>C | p.I1093T | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23607936A>G | c.3278T>C | p.I1093T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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