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Gene | PALB2 |
Variant | V1105A |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PALB2 V1105A lies within WD repeat 5 of the Palb2 protein (UniProt.org). V1105A results in BRCA2-binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 V1105A |
Transcript | NM_024675.4 |
gDNA | chr16:g.23607900A>G |
cDNA | c.3314T>C |
Protein | p.V1105A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.3 | chr16:g.23607900A>G | c.3314T>C | p.V1105A | RefSeq | GRCh38/hg38 |
XM_017023671.1 | chr16:g.23603475A>G | c.3314T>C | p.V1105A | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23607900A>G | c.3314T>C | p.V1105A | RefSeq | GRCh38/hg38 |
XM_011545946.2 | chr16:g.23607906A>G | c.3314T>C | p.V1105A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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