PALB2 N344Tfs*2
Gene Variant Detail

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Gene PALB2
Variant N344Tfs*2
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 N344Tfs*2 indicates a shift in the reading frame starting at amino acid 344 and terminating two residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). N344Tfs*2 has not been characterized, however, due to the effects of other truncation mutations downstream of N344 (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 N344Tfs*2

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Transcript NM_024675.4
gDNA chr16:g.23635518delT
cDNA c.1031delA
Protein p.N344Tfs*2
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675.4 chr16:g.23635518delT c.1031delA p.N344Tfs*2 RefSeq GRCh38/hg38
XM_017023671.1 chr16:g.23635522_23635523insATGT c.1030_1031insCATA p.N344Tfs*2 RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23635518delT c.1031delA p.N344Tfs*2 RefSeq GRCh38/hg38
XM_011545947.2 chr16:g.23635522_23635523insATGT c.1030_1031insCATA p.N344Tfs*2 RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23635518delT c.1031delA p.N344Tfs*2 RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23635518delT c.1031delA p.N344Tfs*2 RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23635518delT c.1031delA p.N344Tfs*2 RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23635518delT c.1031delA p.N344Tfs*2 RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23635518delT c.1031delA p.N344Tfs*2 RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23635518delT c.1031delA p.N344Tfs*2 RefSeq GRCh38/hg38
XM_011545946.2 chr16:g.23635522_23635523insATGT c.1030_1031insCATA p.N344Tfs*2 RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23635518delT c.1031delA p.N344Tfs*2 RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23635518delT c.1031delA p.N344Tfs*2 RefSeq GRCh38/hg38

Filtering

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