Gene Variant Detail

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Gene RAD54L
Variant P85A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions RAD54L P85A does not lie within any known functional domains of the Rad54l protein (UniProt.org). P85A 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 P85A

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Transcript NM_001142548.2
gDNA chr1:g.46258728C>G
cDNA c.253C>G
Protein p.P85A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003579.4 chr1:g.46258728C>G c.253C>G p.P85A RefSeq GRCh38/hg38
NM_001142548.2 chr1:g.46258728C>G c.253C>G p.P85A RefSeq GRCh38/hg38
NM_003579.3 chr1:g.46258728C>G c.253C>G p.P85A RefSeq GRCh38/hg38
NM_003579 chr1:g.46258728C>G c.253C>G p.P85A RefSeq GRCh38/hg38
NM_001142548 chr1:g.46258728C>G c.253C>G p.P85A RefSeq GRCh38/hg38
NM_001142548.1 chr1:g.46258728C>G c.253C>G p.P85A RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries