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Gene PALB2
Variant L659Qfs*3
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 L659Qfs*3 indicates a shift in the reading frame starting at amino acid 659 and terminating three residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). L659Qfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of L659 (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 L659Qfs*3

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Transcript NM_024675.4
gDNA chr16:g.23630177_23630178delCA
cDNA c.1976_1977delTG
Protein p.L659Qfs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407299.1 chr16:g.23630177_23630178delCA c.1976_1977delTG p.L659Qfs*3 RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23630177_23630178delCA c.1976_1977delTG p.L659Qfs*3 RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23630177_23630178delCA c.1976_1977delTG p.L659Qfs*3 RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23630177_23630178delCA c.1976_1977delTG p.L659Qfs*3 RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23630177_23630178delCA c.1976_1977delTG p.L659Qfs*3 RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23630177_23630178delCA c.1976_1977delTG p.L659Qfs*3 RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23630177_23630178delCA c.1976_1977delTG p.L659Qfs*3 RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23630177_23630178delCA c.1976_1977delTG p.L659Qfs*3 RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23630177_23630178delCA c.1976_1977delTG p.L659Qfs*3 RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23630177_23630178delCA c.1976_1977delTG p.L659Qfs*3 RefSeq GRCh38/hg38

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