PALB2 C77Vfs*100
Gene Variant Detail

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Gene PALB2
Variant C77Vfs*100
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions PALB2 C77Vfs*100 indicates a shift in the reading frame starting at amino acid 77 and terminating 100 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). C77Vfs*100 results in intermediate homology-directed DNA repair in cultured cells in one study (PMID: 33964450), and decreased Brca2 binding, homology-directed repair, and repair of interstrand cross-links in cultured cells (PMID: 17420451).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 C77Vfs*100

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Transcript NM_024675.4
gDNA chr16:g.23636317delA
cDNA c.229delT
Protein p.C77Vfs*100
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407300.1 chr16:g.23636317delA c.229delT p.C77Vfs*100 RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23636317delA c.229delT p.C77Vfs*100 RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23636317delA c.229delT p.C77Vfs*100 RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23636317delA c.229delT p.C77Vfs*100 RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23636317delA c.229delT p.C77Vfs*100 RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23636317delA c.229delT p.C77Vfs*100 RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23636317delA c.229delT p.C77Vfs*100 RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23636317delA c.229delT p.C77Vfs*100 RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23636317delA c.229delT p.C77Vfs*100 RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23636317delA c.229delT p.C77Vfs*100 RefSeq GRCh38/hg38

Filtering

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