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Gene | RAD54L |
Variant | S49E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD54L S49E does not lie within any known functional domains of the Rad54l protein (UniProt.org). S49E confers a loss of function to the Rad54l protein as demonstrated by loss of Rad54l oligomerization and impaired DNA binding and branch migration in cell culture and in vitro assays (PMID: 29295984, PMID: 32337843). |
Associated Drug Resistance | |
Category Variants Paths |
RAD54L mutant RAD54L inact mut RAD54L S49E |
Transcript | NM_001142548.2 |
gDNA | chr1:g.46250054_46250056delTCTinsGAG |
cDNA | c.145_147delTCTinsGAG |
Protein | p.S49E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_003579.4 | chr1:g.46250054_46250056delTCTinsGAG | c.145_147delTCTinsGAG | p.S49E | RefSeq | GRCh38/hg38 |
NM_001142548.1 | chr1:g.46250054_46250056delTCTinsGAG | c.145_147delTCTinsGAG | p.S49E | RefSeq | GRCh38/hg38 |
NM_001142548 | chr1:g.46250054_46250056delTCTinsGAG | c.145_147delTCTinsGAG | p.S49E | RefSeq | GRCh38/hg38 |
NM_003579.3 | chr1:g.46250054_46250056delTCTinsGAG | c.145_147delTCTinsGAG | p.S49E | RefSeq | GRCh38/hg38 |
NM_001142548.2 | chr1:g.46250054_46250056delTCTinsGAG | c.145_147delTCTinsGAG | p.S49E | RefSeq | GRCh38/hg38 |
NM_003579 | chr1:g.46250054_46250056delTCTinsGAG | c.145_147delTCTinsGAG | p.S49E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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