RAD54L Chromosome 1
RAD54 like
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What This Gene Does
The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]
Gene Info
Gene Group
SNF2 related family
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000085999
Associated Conditions (8)
Hereditary breast ovarian cancer syndrome
Non-Hodgkin lymphoma
Premature ovarian failure
Inborn genetic diseases
Polymorphous low grade neuroepithelial tumor of the young
Familial cancer of breast
Colon adenocarcinoma
Breast ductal adenocarcinoma
Key Variants
RS112896925
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS139487723
Conflicting classifications of pathogenicity
Non-Hodgkin lymphoma, Non-Hodgkin lymphoma
Health Risk
RS150138364
Conflicting classifications of pathogenicity
Premature ovarian failure, Hereditary breast ovarian cancer syndrome, Premature ovarian failure
Health Risk
RS751010909
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1660658865
Likely pathogenic
Premature ovarian failure, Premature ovarian failure
Health Risk
RS368491231
Likely pathogenic
Premature ovarian failure, Premature ovarian failure
Health Risk
RS374567435
Likely pathogenic
Inborn genetic diseases, Polymorphous low grade neuroepithelial tumor of the young, Inborn genetic diseases
Health Risk
RS776226854
Likely pathogenic
Familial cancer of breast, Familial cancer of breast
Health Risk
RS797044888
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS121908688
Pathogenic
Colon adenocarcinoma, Colon adenocarcinoma
Health Risk
RS121908689
Pathogenic
Non-Hodgkin lymphoma, Non-Hodgkin lymphoma
Health Risk
RS121908690
Pathogenic
Breast ductal adenocarcinoma, Breast ductal adenocarcinoma
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112896925 | Health Risk | Conflicting classifications of pathogenicity | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS139487723 | Health Risk | Conflicting classifications of pathogenicity | Non-Hodgkin lymphoma, Non-Hodgkin lymphoma |
| RS150138364 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure, Hereditary breast ovarian cancer syndrome, Premature ovarian failure |
| RS751010909 | Health Risk | Conflicting classifications of pathogenicity | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS1660658865 | Health Risk | Likely pathogenic | Premature ovarian failure, Premature ovarian failure |
| RS368491231 | Health Risk | Likely pathogenic | Premature ovarian failure, Premature ovarian failure |
| RS374567435 | Health Risk | Likely pathogenic | Inborn genetic diseases, Polymorphous low grade neuroepithelial tumor of the young, Inborn genetic diseases |
| RS776226854 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS797044888 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS121908688 | Health Risk | Pathogenic | Colon adenocarcinoma, Colon adenocarcinoma |
| RS121908689 | Health Risk | Pathogenic | Non-Hodgkin lymphoma, Non-Hodgkin lymphoma |
| RS121908690 | Health Risk | Pathogenic | Breast ductal adenocarcinoma, Breast ductal adenocarcinoma |