Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | PALB2 |
Variant | C882fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 C882fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 882 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). C882fs results in impaired homology-directed DNA repair activity compared to wild-type 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 C882fs |
Transcript | NM_024675.4 |
gDNA | chr16:g.(23626340_23626341) |
cDNA | c.(2644_2643) |
Protein | p.C882fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023673.2 | chr16:g.(23626340_23626341) | c.(2644_2643) | p.C882fs | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.(23626340_23626341) | c.(2644_2643) | p.C882fs | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.(23626340_23626341) | c.(2644_2643) | p.C882fs | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.(23626340_23626341) | c.(2644_2643) | p.C882fs | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.(23626340_23626341) | c.(2644_2643) | p.C882fs | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.(23626340_23626341) | c.(2644_2643) | p.C882fs | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.(23626340_23626341) | c.(2644_2643) | p.C882fs | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.(23626340_23626341) | c.(2644_2643) | p.C882fs | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.(23626340_23626341) | c.(2644_2643) | p.C882fs | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.(23626340_23626341) | c.(2644_2643) | p.C882fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PALB2 C882fs | Advanced Solid Tumor | predicted - sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 C882fs in culture (PMID: 31757951). | 31757951 |