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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 |
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_024675.3 | 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_001407298.1 | 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_017023672.2 | 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 |
NM_024675.4 | 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_001407299.1 | 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_001407302.1 | 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 | chr16:g.23630006A>C | c.2148T>G | p.N716K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PALB2 N716K | unknown |