PALB2 S254Ifs*3
Gene Variant Detail

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Gene PALB2
Variant S254Ifs*3
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 S254Ifs*3 indicates a shift in the reading frame starting at amino acid 254 and terminating 3 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). S254Ifs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of S254 (PMID: 31757951, PMID: 31636395), is predicted to lead to a loss of Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 S254Ifs*3

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Transcript NM_024675.4
gDNA chr16:g.23635787dupT
cDNA c.759dupA
Protein p.S254Ifs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407302.1 chr16:g.23635787dupT c.759dupA p.S254Ifs*3 RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23635787dupT c.759dupA p.S254Ifs*3 RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23635787dupT c.759dupA p.S254Ifs*3 RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23635787dupT c.759dupA p.S254Ifs*3 RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23635787dupT c.759dupA p.S254Ifs*3 RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23635787dupT c.759dupA p.S254Ifs*3 RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23635787dupT c.759dupA p.S254Ifs*3 RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23635787dupT c.759dupA p.S254Ifs*3 RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23635787dupT c.759dupA p.S254Ifs*3 RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23635787dupT c.759dupA p.S254Ifs*3 RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries