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Gene | RAD54L |
Variant | F82S |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD54L F82S does not lie within any known functional domains of the Rad54l protein (UniProt.org). F82S results in loss of Rad51 binding ability when expressed within an N-terminal Rad54l construct in a yeast two-hybrid assay (PMID: 16990250), and therefore, is predicted to lead to a loss of Rad54l protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD54L mutant RAD54L inact mut RAD54L F82S |
Transcript | NM_001142548.2 |
gDNA | chr1:g.46258720T>C |
cDNA | c.245T>C |
Protein | p.F82S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_003579.3 | chr1:g.46258720T>C | c.245T>C | p.F82S | RefSeq | GRCh38/hg38 |
NM_003579.4 | chr1:g.46258720T>C | c.245T>C | p.F82S | RefSeq | GRCh38/hg38 |
NM_001142548.1 | chr1:g.46258720T>C | c.245T>C | p.F82S | RefSeq | GRCh38/hg38 |
NM_001142548.2 | chr1:g.46258720T>C | c.245T>C | p.F82S | RefSeq | GRCh38/hg38 |
NM_003579 | chr1:g.46258720T>C | c.245T>C | p.F82S | RefSeq | GRCh38/hg38 |
NM_001142548 | chr1:g.46258720T>C | c.245T>C | p.F82S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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