Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene RAD51D
Variant G112del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions RAD51D G112del results in the deletion of an amino acid in the Walker A motif region of the Rad51d protein at amino acid 112 (PMID: 30836272). G112del demonstrates reduced ability to interact with Xrcc2 and Rad51c in yeast assays, and fails to restore mitomycin-induced DNA damage in combination with K113del in cell culture (PMID: 16236763), but has not been individually characterized and therefore, its effect on Rad51d protein function is unknown.
Associated Drug Resistance
Category Variants Paths

RAD51D mutant RAD51D G112del

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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_002878.4
gDNA chr17:g.35107377_35107379delCGC
cDNA c.334_336delGGC
Protein p.G112delG
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_133629.3 chr17:g.35103320_35103322delCAA c.334_336delTTG p.L112delL RefSeq GRCh38/hg38
NM_001142571.2 chr17:g.35107435_35107437delCAG c.336_338delGCT p.L113delL RefSeq GRCh38/hg38
NM_002878.4 chr17:g.35107377_35107379delCGC c.334_336delGGC p.G112delG RefSeq GRCh38/hg38
NM_002878 chr17:g.35107377_35107379delCGC c.334_336delGGC p.G112del RefSeq GRCh38/hg38
NM_002878.3 chr17:g.35107377_35107379delCGC c.334_336delGGC p.G112del 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References