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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 similar expression, nuclear localization, and interaction with Brca1 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 |
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 |
---|---|---|---|---|---|
NM_001407300.1 | 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_001407299.1 | 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_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 |
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_001407301.1 | 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 |
XM_017023673.2 | 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 |
NM_024675.3 | chr16:g.23635504G>T | c.1042C>A | p.Q348K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PALB2 Q348K | loss of function - predicted |