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Gene | BARD1 |
Variant | P24_A25insGTSLVPP |
Impact List | insertion |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 P24_A25insGTSLVPP results in the insertion of seven amino acids in the Bard1 protein between amino acids 24 and 25 (UniProt.org). P24_A25insGTSLVPP (referred to as A23delinsAPGTSLVP) has been identified in sequencing studies (PMID: 33933153), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 P24_A25insGTSLVPP |
Transcript | NM_000465.4 |
gDNA | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC |
cDNA | c.73_74insGTACAAGCCTTGTACCTCCTG |
Protein | p.P24_A25insGTSLVPP |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001282545.2 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
NM_001282545.1 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
NM_001282548.2 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
NM_001282548.1 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
NM_001282543.1 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
NM_001282549.1 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
NM_001282543.2 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
NM_001282549.2 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
XM_017004613.1 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
XM_017004613.2 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
XM_017004614.1 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
XM_017004614.2 | chr2:g.214809497_214809498insAGGAGGTACAAGGCTTGTACC | c.73_74insGTACAAGCCTTGTACCTCCTG | p.P24_A25insGTSLVPP | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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