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Gene | BARD1 |
Variant | S602I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 S602I lies within BRCT domain 1 of the Bard1 protein (UniProt.org). S602I has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 S602I |
Transcript | NM_000465.4 |
gDNA | chr2:g.214745727C>A |
cDNA | c.1805G>T |
Protein | p.S602I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.4 | chr2:g.214745727C>A | c.1805G>T | p.S602I | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214745727C>A | c.1805G>T | p.S602I | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214745727C>A | c.1805G>T | p.S602I | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214745727C>A | c.1805G>T | p.S602I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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