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Gene | BARD1 |
Variant | A168T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 A168T lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). A168T has been identified in sequencing studies (PMID: 29681454), 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 A168T |
Transcript | NM_000465.4 |
gDNA | chr2:g.214781372C>T |
cDNA | c.502G>A |
Protein | p.A168T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.3 | chr2:g.214781372C>T | c.502G>A | p.A168T | RefSeq | GRCh38/hg38 |
NM_001282548 | chr2:g.214730500C>T | c.502G>A | p.A168T | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214781372C>T | c.502G>A | p.A168T | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214781372C>T | c.502G>A | p.A168T | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214781372C>T | c.502G>A | p.A168T | RefSeq | GRCh38/hg38 |
NM_001282548.2 | chr2:g.214730500C>T | c.502G>A | p.A168T | RefSeq | GRCh38/hg38 |
NM_001282548.1 | chr2:g.214730500C>T | c.502G>A | p.A168T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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