RAD51C K235N
Gene Variant Detail

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Gene RAD51C
Variant K235N
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions RAD51C K235N does not lie within any known functional domains of the Rad51c protein (UniProt.org). K235N retains functional homology-directed DNA repair activity (PMID: 37253112, PMID: 42625895), and binding to Rad51d and Xrcc3 similar to wild-type Rad51c in culture (PMID: 42625895), however the genomic change (c.705G>C) leads to abnormal splicing leading to skipping of exon 4 and premature protein truncation in a minigene splicing assay (PMID: 33333735) and in patient cells (PMID: 35565380), and demonstrates decreased survival in a high-throughput cell culture assay (PMID: 39299233), and therefore, is predicted to lead to a loss of Rad51c protein function.
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C inact mut RAD51C K235N

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Transcript NM_058216.3
gDNA chr17:g.58703329G>C
cDNA c.705G>C
Protein p.K235N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047436505.1 chr17:g.58703329G>C c.705G>C p.K235N RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58703329G>C c.705G>C p.K235N RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58703329G>C c.705G>C p.K235N RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58703329G>C c.705G>C p.K235N RefSeq GRCh38/hg38

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  • 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