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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 |
Transcript | NM_024675.4 |
gDNA | chr16:g.23636317delA |
cDNA | c.229delT |
Protein | p.C77Vfs*100 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |