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Gene | PALB2 |
Variant | E230* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 E230* results in a premature truncation of the Palb2 protein at amino acid 230 of 1186 (UniProt.org). E230* results in impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31757951), 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 E230* |
Transcript | NM_024675.4 |
gDNA | chr16:g.23635858C>A |
cDNA | c.688G>T |
Protein | p.E230* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023673.2 | chr16:g.23635858C>A | c.688G>T | p.E230* | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23635858C>A | c.688G>T | p.E230* | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23635858C>A | c.688G>T | p.E230* | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23635858C>A | c.688G>T | p.E230* | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23635858C>A | c.688G>T | p.E230* | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23635858C>A | c.688G>T | p.E230* | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23635858C>A | c.688G>T | p.E230* | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23635858C>A | c.688G>T | p.E230* | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23635858C>A | c.688G>T | p.E230* | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23635858C>A | c.688G>T | p.E230* | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23635858C>A | c.688G>T | p.E230* | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23635858C>A | c.688G>T | p.E230* | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23635858C>A | c.688G>T | p.E230* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PALB2 E230* | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 E230* in culture (PMID: 31757951). | 31757951 |