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Gene | PALB2 |
Variant | E672Q |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PALB2 E672Q does not lie within any known functional domains of the Palb2 protein (UniProt.org). E672Q results in homology-directed DNA repair activity similar to wild-type Palb2 in a reporter assay (PMID: 33964450), and homology-directed DNA repair activity similar to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 E672Q |
Transcript | NM_024675.4 |
gDNA | chr16:g.23630140C>G |
cDNA | c.2014G>C |
Protein | p.E672Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407300.1 | chr16:g.23630140C>G | c.2014G>C | p.E672Q | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23630140C>G | c.2014G>C | p.E672Q | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23630140C>G | c.2014G>C | p.E672Q | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23630140C>G | c.2014G>C | p.E672Q | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23630140C>G | c.2014G>C | p.E672Q | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23630140C>G | c.2014G>C | p.E672Q | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23630140C>G | c.2014G>C | p.E672Q | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23630140C>G | c.2014G>C | p.E672Q | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23630140C>G | c.2014G>C | p.E672Q | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23630140C>G | c.2014G>C | p.E672Q | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23630140C>G | c.2014G>C | p.E672Q | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23630140C>G | c.2014G>C | p.E672Q | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23630140C>G | c.2014G>C | p.E672Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PALB2 E672Q | no effect |