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Gene Symbol RAD54L
Synonyms hHR54 | HR54 | hRAD54 | RAD54A
Gene Description RAD54L, RAD54-like, is a member of the SWI2/SNF2 family of dsDNA-dependent ATPases, which functions in homologous recombination in DNA repair (PMID: 20089461, PMID: 21704205). Overexpression of Rad54l has been demonstrated in non-small cell lung cancer (PMID: 21412013).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
amp none no effect RAD54L amplification indicates an increased number of copies of the RAD54L gene. However, the mechanism causing the increase is unspecified.
del deletion loss of function RAD54L del indicates a deletion of the RAD54L gene.
E297* nonsense loss of function - predicted RAD54L E297* results in a premature truncation of the Rad54l protein at amino acid 297 of 747 (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), E297* is predicted to result in a loss of Rad54l protein function.
E436* nonsense loss of function - predicted RAD54L E436* results in a premature truncation of the Rad54l protein at amino acid 436 of 747 (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), E436* is predicted to result in a loss of Rad54l protein function.
F82S missense loss of function - predicted 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.
H110A missense unknown RAD54L H110A does not lie within any known functional domains of the Rad54l protein (UniProt.org). H110A retains the ability to bind Rad51 when expressed within an N-terminal Rad54l construct in a yeast two-hybrid assay (PMID: 16990250), but has not been fully biochemically characterized and therefore, its effect on Rad54l protein function is unknown (PubMed, Jan 2021).
inact mut unknown loss of function RAD54L inact mut indicates that this variant results in a loss of function of the Rad54l protein. However, the specific amino acid change has not been identified.
K189A missense loss of function RAD54L K189A lies within the helicase ATP-binding domain of the Rad54l protein (UniProt.org). K189A confers a loss of function to the Rad54l protein as demonstrated by impaired D-loop formation in an vitro assay (PMID: 17417655), increased sensitivity to DNA damage induction, and decreased displacement of Rad51 from DNA in cultured cells (PMID: 21357745).
K189R missense loss of function RAD54L K189R lies within the helicase ATP-binding domain of the Rad54l protein (UniProt.org). K189R confers a loss of function to the Rad54l protein as demonstrated by loss of ATPase activity (PMID: 9774452) and impaired D-loop formation (PMID: 17417655) in in vitro assays, increased sensitivity to DNA damage induction (PMID: 9774452, PMID: 21357745), and decreased displacement of Rad51 from DNA in cultured cells (PMID: 21357745).
L109Q missense unknown RAD54L L109Q does not lie within any known functional domains of the Rad54l protein (UniProt.org). L109Q retains the ability to bind Rad51 when expressed within an N-terminal Rad54l construct in a yeast two-hybrid assay (PMID: 16990250), but has not been fully biochemically characterized and therefore, its effect on Rad54l protein function is unknown (PubMed, Jan 2021).
loss unknown loss of function RAD54L loss indicates loss of the RAD54L gene, mRNA, and protein.
mutant unknown unknown RAD54L mutant indicates an unspecified mutation in the RAD54L gene.
over exp none no effect RAD54L over exp indicates an over expression of the Rad54l protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P112A missense unknown RAD54L P112A does not lie within any known functional domains of the Rad54l protein (UniProt.org). P112A retains the ability to bind Rad51 when expressed within an N-terminal Rad54l construct in a yeast two-hybrid assay (PMID: 16990250), but has not been fully biochemically characterized and therefore, its effect on Rad54l protein function is unknown (PubMed, Jan 2021).
P694L missense unknown RAD54L P694L does not lie within any known functional domains of the Rad54l protein (UniProt.org). P694L has not been characterized and therefore, its effect on Rad54l protein function is unknown (PubMed, Nov 2020).
P85A missense loss of function - predicted 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.
Q90* nonsense loss of function - predicted RAD54L Q90* results in a premature truncation of the Rad54l protein at amino acid 90 of 747 (UniProt.org). Due to the loss of the ATP-binding and C-terminal helicase domains (UniProt.org), Q90* is predicted to result in a loss of Rad54l protein function.
R75* nonsense loss of function - predicted RAD54L R75* results in a premature truncation of the Rad54l protein at amino acid 75 of 747 (UniProt.org). Due to the loss of the ATP-binding and C-terminal helicase domains (UniProt.org), R75* is predicted to result in a loss of Rad54l protein function.
S49E missense loss of function 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).
Y309* nonsense loss of function - predicted RAD54L Y309* results in a premature truncation of the Rad54l protein at amino acid 309 of 747 (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), Y309* is predicted to result in a loss of Rad54l protein function.