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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, May 2025). |
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 |