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Gene | PALB2 |
Variant | F1181Lfs*54 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 F1181Lfs*54 indicates a shift in the reading frame starting at amino acid 1181 and terminating 54 residues downstream, resulting in a premature truncation of the functional protein and extension of the 1186 amino acid Palb2 protein length by 49 amino acids (UniProt.org). F1181Lfs*54 has not been characterized, however, due to the effects of other truncation mutations downstream of F1181 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 F1181Lfs*54 |
Transcript | NM_024675.4 |
gDNA | chr16:g.23603479delA |
cDNA | c.3543delT |
Protein | p.F1181Lfs*54 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.3 | chr16:g.23603479delA | c.3543delT | p.F1181Lfs*54 | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23603479delA | c.3543delT | p.F1181Lfs*54 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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