Gene Variant Detail

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Gene RAD51C
Variant Q133K
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51C Q133K lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). Q133K results in decreased interaction with Rad51b, Rad51d, Xrcc3, and DNA in in vitro assays and reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300).
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C inact mut RAD51C Q133K

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Transcript NM_058216.3
gDNA chr17:g.58695182C>A
cDNA c.397C>A
Protein p.Q133K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002876.3 chr17:g.58695182C>A c.397C>A p.Q133K RefSeq GRCh38/hg38
NM_002876.4 chr17:g.58695182C>A c.397C>A p.Q133K RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58695182C>A c.397C>A p.Q133K RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58695182C>A c.397C>A p.Q133K RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58695182C>A c.397C>A p.Q133K RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58695182C>A c.397C>A p.Q133K RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58695182C>A c.397C>A p.Q133K RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58695182C>A c.397C>A p.Q133K RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58695182C>A c.397C>A p.Q133K 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References