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Gene | PALB2 |
Variant | T1030I |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 T1030I lies within WD repeat 4 of the Palb2 protein (UniProt.org). T1030I confers a loss of function to the Palb2 protein as demonstrated by reduced Rad51 and Rad51c binding in in vitro assays (PMID: 24141787), decreased protein stability (PMID: 24141787, PMID: 31757951), reduced Rad51 foci formation, loss of Brca2 binding, and aberrant cytoplasmic localization (PMID: 31586400), and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31586400, PMID: 31636395, PMID: 31757951). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 T1030I |
Transcript | NM_024675.4 |
gDNA | chr16:g.23621386G>A |
cDNA | c.3089C>T |
Protein | p.T1030I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023672 | chr16:g.23621386G>A | c.3089C>T | p.T1030I | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23621386G>A | c.3089C>T | p.T1030I | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23621386G>A | c.3089C>T | p.T1030I | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23621386G>A | c.3089C>T | p.T1030I | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23621386G>A | c.3089C>T | p.T1030I | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23621386G>A | c.3089C>T | p.T1030I | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23621386G>A | c.3089C>T | p.T1030I | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23621386G>A | c.3089C>T | p.T1030I | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23621386G>A | c.3089C>T | p.T1030I | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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