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| Gene | RAD51B |
| Variant | L103* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | RAD51B L103* results in a premature truncation of the Rad51b protein at amino acid 103 of 384 (UniProt.org). L103* is predicted to lead to a loss of Rad51b protein function as the corresponding variant in an alternative isoform (L103*) fails to delay G1 cell cycle transition and does not induce apoptosis upon irradiation in cultured cells (PMID: 9788630). |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51B mutant RAD51B inact mut RAD51B L103* |
| Transcript | NM_133509.5 |
| gDNA | chr14:g.67835188_67835190delCTCinsTAA |
| cDNA | c.307_309delCTCinsTAA |
| Protein | p.L103* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001321818 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_133509.5 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321812 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321821 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321821.2 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| XM_017021545 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_133509.3 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_002877.5 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321810 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321809.1 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321812.1 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_002877.6 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_133510.3 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_133509 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321814.1 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_133510.4 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321814.2 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321821.1 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| XM_011537050.3 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321814 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321812.1 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321809.2 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_133510 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321819 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| XM_011537051 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321819.1 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321818.1 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_002877 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| XM_011537050 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321818.2 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321819.1 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| XM_017021545.2 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321809 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321810.1 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| NM_001321810.2 | chr14:g.67835188_67835190delCTCinsTAA | c.307_309delCTCinsTAA | p.L103* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|