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Gene | PALB2 |
Variant | S417A |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 S417A lies within the DNA-binding and chromatin-association motif regions of the Palb2 protein (UniProt.org). S417A results in decreased chromatin binding in an in vitro assay (PMID: 32041954), 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 S417A |
Transcript | NM_024675.4 |
gDNA | chr16:g.23635297A>C |
cDNA | c.1249T>G |
Protein | p.S417A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023672.2 | chr16:g.23635297A>C | c.1249T>G | p.S417A | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23635297A>C | c.1249T>G | p.S417A | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23635297A>C | c.1249T>G | p.S417A | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23635297A>C | c.1249T>G | p.S417A | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23635297A>C | c.1249T>G | p.S417A | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23635297A>C | c.1249T>G | p.S417A | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23635297A>C | c.1249T>G | p.S417A | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23635297A>C | c.1249T>G | p.S417A | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23635297A>C | c.1249T>G | p.S417A | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23635297A>C | c.1249T>G | p.S417A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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