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Gene PALB2
Variant N716K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 N716K does not lie within any known functional domains of the Palb2 protein (UniProt.org). N716K does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 N716K

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Transcript NM_024675.4
gDNA chr16:g.23630006A>C
cDNA c.2148T>G
Protein p.N716K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675.4 chr16:g.23630006A>C c.2148T>G p.N716K RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23630006A>C c.2148T>G p.N716K RefSeq GRCh38/hg38
XM_017023672 chr16:g.23630006A>C c.2148T>G p.N716K RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23630006A>C c.2148T>G p.N716K RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23630006A>C c.2148T>G p.N716K RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23630006A>C c.2148T>G p.N716K RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23630006A>C c.2148T>G p.N716K RefSeq GRCh38/hg38
XM_017023673 chr16:g.23630006A>C c.2148T>G p.N716K RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23630006A>C c.2148T>G p.N716K RefSeq GRCh38/hg38
NM_024675 chr16:g.23630006A>C c.2148T>G p.N716K RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23630006A>C c.2148T>G p.N716K RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23630006A>C c.2148T>G p.N716K RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23630006A>C c.2148T>G p.N716K RefSeq GRCh38/hg38

Filtering

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