PALB2 N821Tfs*25
Gene Variant Detail

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Gene PALB2
Variant N821Tfs*25
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 N821Tfs*25 indicates a shift in the reading frame starting at amino acid 821 and terminating 25 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). N821Tfs*25 has not been characterized however, due to the effects of other truncation mutations downstream of N821 (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 N821Tfs*25

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Transcript NM_024675.4
gDNA chr16:g.(23629252_23629693)
cDNA c.(2461_2538)
Protein p.N821Tfs*25
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023673 chr16:g.(23629252_23629693) c.(2461_2538) p.N821Tfs*25 RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.(23626374_23629693) c.(2461_2538) p.N821Tfs*25 RefSeq GRCh38/hg38
NM_024675 chr16:g.(23629252_23629693) c.(2461_2538) p.N821Tfs*25 RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.(23629252_23629693) c.(2461_2538) p.N821Tfs*25 RefSeq GRCh38/hg38
XM_017023672 chr16:g.(23629252_23629693) c.(2461_2538) p.N821Tfs*25 RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.(23629252_23629693) c.(2461_2538) p.N821Tfs*25 RefSeq GRCh38/hg38
NM_024675.3 chr16:g.(23629252_23629693) c.(2461_2538) p.N821Tfs*25 RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.(23629252_23629693) c.(2461_2538) p.N821Tfs*25 RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.(23629252_23629693) c.(2461_2538) p.N821Tfs*25 RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.(23629252_23629693) c.(2461_2538) p.N821Tfs*25 RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.(23629252_23629693) c.(2461_2538) p.N821Tfs*25 RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.(23629252_23629693) c.(2461_2538) p.N821Tfs*25 RefSeq GRCh38/hg38
NM_024675.4 chr16:g.(23629252_23629693) c.(2461_2538) p.N821Tfs*25 RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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