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Gene | RAD54L |
Variant | L381Cfs*8 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD54L L381Cfs*8 indicates a shift in the reading frame starting at amino acid 381 and terminating eight residues downstream causing a premature truncation of the 747 amino acid Rad54l protein (UniProt.org). Due to loss of the C-terminal helicase domain (UniProt.org), L381Cfs*8 is predicted to lead to a loss of Rad54l protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD54L mutant RAD54L inact mut RAD54L L381Cfs*8 |
Transcript | NM_001142548.2 |
gDNA | chr1:g.46270757delC |
cDNA | c.1141delC |
Protein | p.L381Cfs*8 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001142548.2 | chr1:g.46270757delC | c.1141delC | p.L381Cfs*8 | RefSeq | GRCh38/hg38 |
NM_001142548.1 | chr1:g.46270757delC | c.1141delC | p.L381Cfs*8 | RefSeq | GRCh38/hg38 |
NM_003579.4 | chr1:g.46270757delC | c.1141delC | p.L381Cfs*8 | RefSeq | GRCh38/hg38 |
NM_003579.3 | chr1:g.46270757delC | c.1141delC | p.L381Cfs*8 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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