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Gene | PALB2 |
Variant | K16M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 K16M lies within the DNA-binding, BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). K16M results in decreased Brca1 interaction, homology-directed DNA repair activity, and Palb2 and Rad51 foci formation in cultured cells, but maintains Rad51 binding, IR-induced G2/M checkpoint response, and rescues sensitivity to DNA-damaging agents to similar levels of wild-type protein in culture (PMID: 35853885), and therefore, its effect on Palb2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 K16M |
Transcript | NM_024675.4 |
gDNA | chr16:g.23641111T>A |
cDNA | c.47A>T |
Protein | p.K16M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407301.1 | chr16:g.23641111T>A | c.47A>T | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407314.1 | chr16:g.23641111T>A | c.47A>T | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407308.1 | chr16:g.23635613_23635614delAAinsTG | c.47_48delAAinsTG | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23641111T>A | c.47A>T | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407296.1 | chr16:g.23641111T>A | c.47A>T | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407310.1 | chr16:g.23635613_23635614delAAinsTG | c.47_48delAAinsTG | p.K16M | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23641111T>A | c.47A>T | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23641111T>A | c.47A>T | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407311.1 | chr16:g.23635613_23635614delAAinsTG | c.47_48delAAinsTG | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407309.1 | chr16:g.23635613_23635614delAAinsTG | c.47_48delAAinsTG | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407305.1 | chr16:g.23635613_23635614delAAinsTG | c.47_48delAAinsTG | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23641111T>A | c.47A>T | p.K16M | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23641111T>A | c.47A>T | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407306.1 | chr16:g.23635613_23635614delAAinsTG | c.47_48delAAinsTG | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23641111T>A | c.47A>T | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407307.1 | chr16:g.23635613_23635614delAAinsTG | c.47_48delAAinsTG | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23641111T>A | c.47A>T | p.K16M | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23641111T>A | c.47A>T | p.K16M | RefSeq | GRCh38/hg38 |
NM_001407304.1 | chr16:g.23635613_23635614delAAinsTG | c.47_48delAAinsTG | p.K16M | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23641111T>A | c.47A>T | p.K16M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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