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Gene | PALB2 |
Variant | K1048Rfs*27 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 K1048Rfs*27 indicates a shift in the reading frame starting at amino acid 1048 and terminating 27 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). K1048Rfs*27 has not been characterized however, due to the effects of other truncation mutations downstream of K1048 (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 K1048Rfs*27 |
Transcript | NM_024675.4 |
gDNA | chr16:g.23614066delT |
cDNA | c.3143delA |
Protein | p.K1048Rfs*27 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.3 | chr16:g.23614066delT | c.3143delA | p.K1048Rfs*27 | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23614064_23614065insGGGCTT | c.3142_3143insGCCCAA | p.K1048Rfs*27 | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23614064_23614065insGGGCTT | c.3142_3143insGCCCAA | p.K1048Rfs*27 | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23614066delT | c.3143delA | p.K1048Rfs*27 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PALB2 K1048Rfs*27 | loss of function - predicted | PARP Inhibitor (Pan) |