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