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Gene | RAD51B |
Variant | Q371* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51B Q371* results in a premature truncation of the Rad51b protein at amino acid 371 of 384 (UniProt.org). Q371* has been identified in sequencing studies (PMID: 30205045, PMID: 36277904), but has not been biochemically characterized and therefore, its effect on Rad51b protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51B mutant RAD51B Q371* |
Transcript | NM_133509.5 |
gDNA | chr14:g.68594559C>T |
cDNA | c.1111C>T |
Protein | p.Q371* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_133509 | chr14:g.68594559C>T | c.1111C>T | p.Q371* | RefSeq | GRCh38/hg38 |
NM_133509.3 | chr14:g.68594559C>T | c.1111C>T | p.Q371* | RefSeq | GRCh38/hg38 |
NM_133509.5 | chr14:g.68594559C>T | c.1111C>T | p.Q371* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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