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Gene | RAD51C |
Variant | P330H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C P330H does not lie within any known functional domains of the Rad51c protein (UniProt.org). P330H retains binding with Rad51b and Xrcc3 and rescues survival in Rad51c-null cells in culture, however, results in decreased binding with Rad51d in a yeast assay and reduced homologous recombination activity in cultured cells (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C P330H |
Transcript | NM_058216.3 |
gDNA | chr17:g.58732507C>A |
cDNA | c.989C>A |
Protein | p.P330H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_058216 | chr17:g.58732507C>A | c.989C>A | p.P330H | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58732507C>A | c.989C>A | p.P330H | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58732507C>A | c.989C>A | p.P330H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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