RAD51D G96C
Gene Variant Detail

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Gene RAD51D
Variant G96C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51D G96C does not lie within any known functional domains of the Rad51d protein (UniProt.org). G96C results in reduced homologous recombination, impaired Xrcc2 binding compared to wild-type Rad51d in culture, and reduced binding with Rad51c and Xrcc2 in yeast (PMID: 30836272).
Associated Drug Resistance
Category Variants Paths

RAD51D mutant RAD51D inact mut RAD51D G96C

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Transcript NM_002878.4
gDNA chr17:g.35107425C>A
cDNA c.286G>T
Protein p.G96C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002878.3 chr17:g.35107425C>A c.286G>T p.G96C RefSeq GRCh38/hg38
NM_002878 chr17:g.35107425C>A c.286G>T p.G96C RefSeq GRCh38/hg38
NM_002878.4 chr17:g.35107425C>A c.286G>T p.G96C 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

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  • 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