RAD51C R212H
Gene Variant Detail

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Gene RAD51C
Variant R212H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RAD51C R212H does not lie within any known functional domains of the Rad51c protein (UniProt.org). R212H retains homology-directed DNA repair activity similar to wild-type Rad51c in one study (PMID: 37253112), but demonstrates intermediate homology-directed DNA repair activity in a different study, and results in abnormal replication fork progression leading to accumulation of single strand DNA breaks in culture (PMID: 42625895), and therefore, its effect on Rad51c protein function is unknown.
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C R212H

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Transcript NM_058216.3
gDNA chr17:g.58703259G>A
cDNA c.635G>A
Protein p.R212H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722002.5 chr17:g.58703259G>A c.635G>A p.R212H RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58703259G>A c.635G>A p.R212H RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58703259G>A c.635G>A p.R212H RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58703259G>A c.635G>A p.R212H RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51C R212H Advanced Solid Tumor no benefit Saruparib Preclinical - Cell culture Actionable In a preclinical study, Saruparib (AZD5305) treatment did not inhibit colony formation in cells expressing RAD51C R212H in culture (PMID: 42625895). 42625895
RAD51C R212H Advanced Solid Tumor no benefit Ceralasertib Preclinical - Cell culture Actionable In a preclinical study, Ceralasertib (AZD6738) treatment did not inhibit colony formation in cells expressing RAD51C R212H in culture (PMID: 42625895). 42625895