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Gene | PALB2 |
Variant | L939W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 L939W lies within WD repeat 2 of the Palb2 protein (UniProt.org). The functional effect of L939W is conflicting, as it has been reported to result in decreased Brca2, Rad51, and Xrcc3 binding in in vitro assays and a modest reduction in homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 24141787), but in another study demonstrates Brca2, Rad51, and Rad51c binding similar to wild-type Palb2 in cultured cells (PMID: 24141787, PMID: 31586400), and homology-directed DNA repair activity similar to wild-type in a reporter assay (PMID: 33964450), and in cultured cells lacking Tp53 (PMID: 27829436, PMID: 31636395, PMID: 31757951), and therefore, its effect on Palb2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 L939W |
Transcript | NM_024675.4 |
gDNA | chr16:g.23624027A>C |
cDNA | c.2816T>G |
Protein | p.L939W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023672 | chr16:g.23624027A>C | c.2816T>G | p.L939W | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23624027A>C | c.2816T>G | p.L939W | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23624027A>C | c.2816T>G | p.L939W | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23624027A>C | c.2816T>G | p.L939W | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23624027A>C | c.2816T>G | p.L939W | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23624027A>C | c.2816T>G | p.L939W | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23624027A>C | c.2816T>G | p.L939W | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23624027A>C | c.2816T>G | p.L939W | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23624027A>C | c.2816T>G | p.L939W | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23624027A>C | c.2816T>G | p.L939W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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