RAD51C I341M
Gene Variant Detail

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Gene RAD51C
Variant I341M
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51C I341M does not lie within any known functional domains of the Rad51c protein (UniProt.org). I341M confers a loss of function to Rad51c as demonstrated by defective homology-directed DNA repair activity, abnormal replication fork progression, failure to rescue hypersensitivity to PARP and ATR inhibitors in Rad51c-deficient cells in culture, defective interaction with Rad51d in a yeast assay (PMID: 42625895), and decreased survival in a high-throughput cell culture assay (PMID: 39299233).
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C inact mut RAD51C I341M

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Transcript NM_058216.3
gDNA chr17:g.58732541C>G
cDNA c.1023C>G
Protein p.I341M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216.3 chr17:g.58732541C>G c.1023C>G p.I341M RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51C I341M Advanced Solid Tumor sensitive Ceralasertib + Saruparib Preclinical - Cell culture Actionable In a preclinical study, Ceralasertib (AZD6738) and Saruparib (AZD5305) synergistically inhibited colony formation in cell lines expressing RAD51C I341M in culture (PMID: 42625895). 42625895