PALB2 K1048Rfs*27
Gene Variant Detail

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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

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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
NM_001407301.1 chr16:g.23614064_23614065insGGGCTT c.3142_3143insGCCCAA p.K1048Rfs*27 RefSeq GRCh38/hg38
XM_017023673.2 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

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References