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Gene | PALB2 |
Variant | L24F |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 L24F lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L24F retains binding with Rad51 but confers a loss of function to Palb2 as demonstrated by decreased homology-directed DNA repair activity and Brca1 interaction, reduced Palb2 and Rad51 foci formation, increased sensitivity to DNA damaging agents, and failure to maintain an IR-induced G2/M checkpoint in cultured cells (PMID: 35853885). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 L24F |
Transcript | NM_024675.4 |
gDNA | chr16:g.23638106C>A |
cDNA | c.72G>T |
Protein | p.L24F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407301.1 | chr16:g.23638106C>A | c.72G>T | p.L24F | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23638106C>A | c.72G>T | p.L24F | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23638106C>A | c.72G>T | p.L24F | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23638106C>A | c.72G>T | p.L24F | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23638106C>A | c.72G>T | p.L24F | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23638106C>A | c.72G>T | p.L24F | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23638106C>A | c.72G>T | p.L24F | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23638106C>A | c.72G>T | p.L24F | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23638106C>A | c.72G>T | p.L24F | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23638106C>A | c.72G>T | p.L24F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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