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Gene | PALB2 |
Variant | I944N |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 I944N lies within WD repeat 2 of the Palb2 protein (UniProt.org). I944N confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability (PMID: 31757951), reduced Brca2 and Rad51 binding, recruitment to DNA damage sites, and Rad51 foci formation, aberrant cytosolic accumulation (PMID: 31636395), and loss of homology-directed DNA repair activity in cultured cells (PMID: 31636395, PMID: 31757951). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 I944N |
Transcript | NM_024675.4 |
gDNA | chr16:g.23624012A>T |
cDNA | c.2831T>A |
Protein | p.I944N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407301.1 | chr16:g.23624012A>T | c.2831T>A | p.I944N | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23624012A>T | c.2831T>A | p.I944N | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23624012A>T | c.2831T>A | p.I944N | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23624012A>T | c.2831T>A | p.I944N | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23624012A>T | c.2831T>A | p.I944N | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23624012A>T | c.2831T>A | p.I944N | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23624012A>T | c.2831T>A | p.I944N | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23624012A>T | c.2831T>A | p.I944N | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23624012A>T | c.2831T>A | p.I944N | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23624012A>T | c.2831T>A | p.I944N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PALB2 I944N | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 I944N were sensitive to treatment with Lynparza (olaparib) in culture, demonstrating decreased cell survival (PMID: 31636395). | 31636395 |