Gene Variant Detail

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Gene RAD51D
Variant K113A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RAD51D K113A lies within the Walker A motif region of the Rad51d protein (PMID: 30836272). The functional effect of K113A is conflicting, as it restores mitomycin sensitivity and retains the ability to interact with Xrcc2 similar to wild-type Rad51d (PMID: 16717288, PMID: 16236763), however, demonstrates decreased Rad51c binding, reduced homologous recombination repair ability, and failure to restore mitomycin-induced DNA damage in cell culture (PMID: 16236763, PMID: 16717288, PMID: 30836272), and therefore, its effect on Rad51d protein function is unknown.
Associated Drug Resistance
Category Variants Paths

RAD51D mutant RAD51D K113A

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Transcript NM_002878.4
gDNA chr17:g.35107373_35107374delAAinsGC
cDNA c.337_338delAAinsGC
Protein p.K113A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002878.3 chr17:g.35107373_35107374delAAinsGC c.337_338delAAinsGC p.K113A RefSeq GRCh38/hg38
NM_002878 chr17:g.35107373_35107374delTTinsGC c.337_338delAAinsGC p.K113A RefSeq GRCh38/hg38
NM_002878.4 chr17:g.35107373_35107374delAAinsGC c.337_338delAAinsGC p.K113A 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 Protein Effect Treatment Approaches
RAD51D K113A unknown