PALB2 Q348K
Gene Variant Detail

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Gene PALB2
Variant Q348K
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 Q348K lies within the DNA-binding region of the Palb2 protein (UniProt.org). Q348K results in expression, nuclear localization, and interaction with Brca1 similar to wild-type Palb2, but leads to a partial reduction in homologous recombination activity in cell culture (PMID: 35762214), and therefore, is predicted to lead to a loss of Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 Q348K

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Transcript NM_024675.4
gDNA chr16:g.23635504G>T
cDNA c.1042C>A
Protein p.Q348K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023673.2 chr16:g.23635504G>T c.1042C>A p.Q348K RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23635504G>T c.1042C>A p.Q348K RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23635504G>T c.1042C>A p.Q348K RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23635504G>T c.1042C>A p.Q348K RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23635504G>T c.1042C>A p.Q348K RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23635504G>T c.1042C>A p.Q348K RefSeq GRCh38/hg38
NM_024675 chr16:g.23635504G>T c.1042C>A p.Q348K RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23635504G>T c.1042C>A p.Q348K RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23635504G>T c.1042C>A p.Q348K RefSeq GRCh38/hg38
XM_017023673 chr16:g.23635504G>T c.1042C>A p.Q348K RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23635504G>T c.1042C>A p.Q348K RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23635504G>T c.1042C>A p.Q348K RefSeq GRCh38/hg38
XM_017023672 chr16:g.23635504G>T c.1042C>A p.Q348K RefSeq GRCh38/hg38

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