RAD51C D141H
Gene Variant Detail

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Gene RAD51C
Variant D141H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51C D141H does not lie within any known functional domains of the Rad51c protein (UniProt.org). D141H confers a loss of function to Rad51c as demonstrated by reduced homology-directed DNA repair activity, abnormal replication fork progression leading to accumulation of ssDNA breaks 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 D141H

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Transcript NM_058216.3
gDNA chr17:g.58696709G>C
cDNA c.421G>C
Protein p.D141H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216.3 chr17:g.58696709G>C c.421G>C p.D141H RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58696709G>C c.421G>C p.D141H RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58696709G>C c.421G>C p.D141H RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58696709G>C c.421G>C p.D141H 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51C D141H 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 D141H in culture (PMID: 42625895). 42625895
RAD51C D141H 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 D141H in culture (PMID: 42625895). 42625895
RAD51C D141H 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 D141H in culture (PMID: 42625895). 42625895