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Gene | BARD1 |
Variant | L359_P365del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 L359_P365del results in the deletion of seven amino acids of the Bard1 protein from amino acids 359 to 365 (UniProt.org). L359_P365del has been identified in sequencing studies (PMID: 28717660, PMID: 27748766, PMID: 32756499), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 L359_P365del |
Transcript | NM_000465.4 |
gDNA | chr2:g.214780783_214780803del21 |
cDNA | c.1075_1095del21 |
Protein | p.L359_P365delLPECSSP |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017004613.2 | chr2:g.214780878_214780898del21 | c.1075_1095del21 | p.N359_I365delNRLSSPI | RefSeq | GRCh38/hg38 |
XM_017004614.2 | chr2:g.214780878_214780898del21 | c.1075_1095del21 | p.N359_I365delNRLSSPI | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214780783_214780803del21 | c.1075_1095del21 | p.L359_P365del | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214780783_214780803del21 | c.1075_1095del21 | p.L359_P365delLPECSSP | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214780783_214780803del21 | c.1075_1095del21 | p.L359_P365del | RefSeq | GRCh38/hg38 |
NM_001282543.2 | chr2:g.214780722_214780742del21 | c.1075_1095del21 | p.R359_S365delRKNSNMS | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214780783_214780803del21 | c.1075_1095del21 | p.L359_P365delLPECSSP | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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