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Gene | PALB2 |
Variant | L1143P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 L1143P lies within WD repeat 6 of the Palb2 protein (UniProt.org). The functional effect of L1143P is conflicting, as it has been reported to result in Brca2 binding similar to wild-type Palb2 in cultured cells (PMID: 31586400), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395), however, demonstrates decreased Rad51, Rad51c, and Xrcc3 binding in in vitro assays, and reduced Brca2 and Rad51c binding, decreased Rad51 foci formation, and impaired homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 24141787), and therefore, its effect on Palb2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 L1143P |
Transcript | NM_024675.4 |
gDNA | chr16:g.23603592A>G |
cDNA | c.3428T>C |
Protein | p.L1143P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.3 | chr16:g.23603592A>G | c.3428T>C | p.L1143P | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23603592A>G | c.3428T>C | p.L1143P | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23603592A>G | c.3428T>C | p.L1143P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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