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Gene | PALB2 |
Variant | K1041T |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PALB2 K1041T lies within WD repeat 4 of the Palb2 protein (UniProt.org). K1041T results in BRCA2 binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 K1041T |
Transcript | NM_024675.4 |
gDNA | chr16:g.23614083T>G |
cDNA | c.3122A>C |
Protein | p.K1041T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023673.2 | chr16:g.23614083T>G | c.3122A>C | p.K1041T | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23614083T>G | c.3122A>C | p.K1041T | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23614083T>G | c.3122A>C | p.K1041T | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23614083T>G | c.3122A>C | p.K1041T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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