PALB2 K30N
Gene Variant Detail

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Gene PALB2
Variant K30N
Impact List missense
Protein Effect no effect
Gene Variant Descriptions PALB2 K30N lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). K30N results in homology-directed DNA repair (PMID: 28319063, PMID: 31586400, PMID: 33964450) and BRCA1 binding similar to wild-type Palb2, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 28319063, PMID: 31586400).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 K30N

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Transcript NM_024675.4
gDNA chr16:g.23638088C>G
cDNA c.90G>C
Protein p.K30N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407297.1 chr16:g.23638088C>G c.90G>C p.K30N RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23638088C>G c.90G>C p.K30N RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23638088C>G c.90G>C p.K30N RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23638088C>G c.90G>C p.K30N RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23638088C>G c.90G>C p.K30N RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23638088C>G c.90G>C p.K30N RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23638088C>G c.90G>C p.K30N RefSeq GRCh38/hg38
NM_001407312.1 chr16:g.23630276T>G c.90A>C p.K30N RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23638088C>G c.90G>C p.K30N RefSeq GRCh38/hg38
NM_001407313.1 chr16:g.23630276T>G c.90A>C p.K30N RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23638088C>G c.90G>C p.K30N RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23638088C>G c.90G>C p.K30N RefSeq GRCh38/hg38
NM_001407296.1 chr16:g.23637911T>G c.90A>C p.K30N RefSeq GRCh38/hg38

Filtering

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

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