Information on RAD51
Basic details
Alt. symbols: RAD51A | RECA | HsRad51 | HsT16930 | BRCC5 | FANCR
Approved name: RAD51 recombinase
Alt. names: RAD51 (S. cerevisiae) homolog (E coli RecA homolog), RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae), RAD51 homolog (S. cerevisiae) | BRCA1/BRCA2-containing complex, subunit 5
Location: 15q15.1: 40694774 - 40732340 (+)
Gene type: protein_coding, 11 transcripts.
Scores: LoFtool: 0.140000 | pLI: 0.99041809 | LOEUF: 0.644
Normal function
Dysfunction and disease
?Fanconi anemia, complementation group R [MIM:617244] | Mirror movements 2 [MIM:614508] | {Breast cancer, susceptibility to} [MIM:114480] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
MRMV2 |
Mirror movements 2 | AD |
614508 |
0 (0 fams) | |
| FANCR |
Fanconi anemia, complementation group R | AD |
613390 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of RAD51
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 203 | ENST00000423169.6 | CCDS53932 | protein_coding | 9 | No | 1611 | NM_001164270 | ||
| 208 | ENST00000532743.6 | CCDS10062 | protein_coding | 10 | No | 1539 | XM_011521858 | ||
| 211 | ENST00000645673.2 | CCDS53931 | protein_coding | 10 | No | 2439 | NM_001164269,NM_133487 | ||
| 201 | ENST00000267868.8 | 1 | CCDS10062 | Select | protein_coding | 10 | Yes | 2436 | NM_002875 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in RAD51
| ID | Year | Title | Journal | PMID | Variants |
|---|