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Gene | PALB2 |
Variant | G1043A |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 G1043A lies within WD repeat 4 of the Palb2 protein (UniProt.org). G1043A does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395), however, results in decreased Brca2 binding, reduced Palb2 recruitment to DNA damage sites, and impaired homology-directed DNA repair activity in cultured cells in another study (PMID: 31586400), and therefore, is predicted to lead to a loss of Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 G1043A |
Transcript | NM_024675.4 |
gDNA | chr16:g.23614077C>G |
cDNA | c.3128G>C |
Protein | p.G1043A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023673 | chr16:g.23614077C>G | c.3128G>C | p.G1043A | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23614077C>G | c.3128G>C | p.G1043A | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23614077C>G | c.3128G>C | p.G1043A | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23614077C>G | c.3128G>C | p.G1043A | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23614077C>G | c.3128G>C | p.G1043A | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23614077C>G | c.3128G>C | p.G1043A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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