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Gene | PALB2 |
Variant | A712P |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PALB2 A712P does not lie within any known functional domains of the Palb2 protein (UniProt.org). A712P 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 A712P |
Transcript | NM_024675.4 |
gDNA | chr16:g.23630020C>G |
cDNA | c.2134G>C |
Protein | p.A712P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407301.1 | chr16:g.23630020C>G | c.2134G>C | p.A712P | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23630020C>G | c.2134G>C | p.A712P | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23630020C>G | c.2134G>C | p.A712P | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23630020C>G | c.2134G>C | p.A712P | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23630020C>G | c.2134G>C | p.A712P | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23630020C>G | c.2134G>C | p.A712P | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23630020C>G | c.2134G>C | p.A712P | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23630020C>G | c.2134G>C | p.A712P | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23630020C>G | c.2134G>C | p.A712P | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23630020C>G | c.2134G>C | p.A712P | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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