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Gene | PALB2 |
Variant | R1086* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 R1086* indicates a premature truncation of the Palb2 protein at amino acid 1086 of 1186 (UniProt.org). R1086* results in impaired homologous recombination in cultured cells (PMID: 33169439), 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 R1086* |
Transcript | NM_024675.4 |
gDNA | chr16:g.23607958G>A |
cDNA | c.3256C>T |
Protein | p.R1086* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.3 | chr16:g.23607958G>A | c.3256C>T | p.R1086* | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23607958G>A | c.3256C>T | p.R1086* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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