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Gene | PALB2 |
Variant | L24P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 L24P lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L24P results in Brca2 and Rad51 binding similar to wild-type Palb2 but fails to bind Brca1 and results in deficient Rad51 and Palb2 nuclear foci assembly (PMID: 19584259) and decreased homology-directed DNA repair in cultured cells (PMID: 19584259, PMID: 33964450). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 L24P |
Transcript | NM_024675.4 |
gDNA | chr16:g.23638107_23638108delTTinsCC |
cDNA | c.70_71delTTinsCC |
Protein | p.L24P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407302.1 | chr16:g.23638107_23638108delTTinsCC | c.70_71delTTinsCC | p.L24P | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23638107_23638108delTTinsCC | c.70_71delTTinsCC | p.L24P | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23638107_23638108delTTinsCC | c.70_71delTTinsCC | p.L24P | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23638107_23638108delTTinsCC | c.70_71delTTinsCC | p.L24P | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23638107_23638108delTTinsCC | c.70_71delTTinsCC | p.L24P | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23638107_23638108delTTinsCC | c.70_71delTTinsCC | p.L24P | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23638107_23638108delTTinsCC | c.70_71delTTinsCC | p.L24P | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23638107_23638108delTTinsCC | c.70_71delTTinsCC | p.L24P | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23638107_23638108delTTinsCC | c.70_71delTTinsCC | p.L24P | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23638107_23638108delTTinsCC | c.70_71delTTinsCC | p.L24P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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