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Gene | PALB2 |
Variant | D498Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 D498Y lies within the DNA-binding region of the Palb2 protein (UniProt.org). D498Y does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 D498Y |
Transcript | NM_024675.4 |
gDNA | chr16:g.23635054C>A |
cDNA | c.1492G>T |
Protein | p.D498Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023671.1 | chr16:g.23635060C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23635054C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23635054C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23635054C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
XM_011545947 | chr16:g.23635060C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
XM_011545947.2 | chr16:g.23635060C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23635054C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23635054C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
XM_017023671 | chr16:g.23635060C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23635054C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23635054C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23635054C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23635054C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
XM_011545946.2 | chr16:g.23635060C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
XM_011545946 | chr16:g.23635060C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23635054C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23635054C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23635054C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23635054C>A | c.1492G>T | p.D498Y | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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