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Gene | PALB2 |
Variant | H46Y |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 H46Y lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). H46Y results in subcellular localization, RAD51 foci formation, and homologous repair activity similar to wild-type Palb2 in cultured cells and BRCA1 binding similar to wild-type protein in a mammalian two-hybrid assay, but fails to rescue PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to lead to a loss of Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 H46Y |
Transcript | NM_024675.4 |
gDNA | chr16:g.23637925G>A |
cDNA | c.136C>T |
Protein | p.H46Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407302.1 | chr16:g.23637925G>A | c.136C>T | p.H46Y | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23637925G>A | c.136C>T | p.H46Y | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23637925G>A | c.136C>T | p.H46Y | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23637925G>A | c.136C>T | p.H46Y | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23637925G>A | c.136C>T | p.H46Y | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23637925G>A | c.136C>T | p.H46Y | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23637925G>A | c.136C>T | p.H46Y | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23637925G>A | c.136C>T | p.H46Y | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23637925G>A | c.136C>T | p.H46Y | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23637925G>A | c.136C>T | p.H46Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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