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Gene | PALB2 |
Variant | Y28C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 Y28C lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). Y28C results in decreased Brca1 binding and Rad51 foci formation (PMID: 28319063, PMID: 31586400), and impaired homology-directed DNA repair activity in cultured cells in one study (PMID: 28319063, PMID: 31586400, PMID: 31757951), but results in intermediate homology-directed DNA repair in a reporter assay (PMID: 33964450), and rescues PARP inhibitor sensitivity in PALB2-null cells (PMID: 31586400), and therefore, its effect on Palb2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 Y28C |
Transcript | NM_024675.4 |
gDNA | chr16:g.23638095T>C |
cDNA | c.83A>G |
Protein | p.Y28C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023672 | chr16:g.23638095T>C | c.83A>G | p.Y28C | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23638095T>C | c.83A>G | p.Y28C | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23638095T>C | c.83A>G | p.Y28C | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23638095T>C | c.83A>G | p.Y28C | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23638095T>C | c.83A>G | p.Y28C | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23638095T>C | c.83A>G | p.Y28C | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23638095T>C | c.83A>G | p.Y28C | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23638095T>C | c.83A>G | p.Y28C | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23638095T>C | c.83A>G | p.Y28C | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23638095T>C | c.83A>G | p.Y28C | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23638095T>C | c.83A>G | p.Y28C | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23638095T>C | c.83A>G | p.Y28C | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23638095T>C | c.83A>G | p.Y28C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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