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@genomenon.com

Gene RAD51C
Variant L138F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RAD51C L138F does not lie within any known functional domains of the Rad51c protein (UniProt.org). L138F is conflicting as it demonstrates homologous recombination activity similar to wild-type Rad51c in one cell line but deficient activity in another cell line, and rescues survival in Rad51c-null cells in culture (PMID: 36099300), but results in a loss of interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay (PMID: 36099300), decreased Rad51 foci formation in cell culture, and failure to rescue mitomycin C hypersensitivity (PMID: 20400964), and therefore, its effect on Rad51c protein function is unknown.
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C L138F

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_058216.3
gDNA chr17:g.58696702G>T
cDNA c.414G>T
Protein p.L138F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017024915.1 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58696702G>T c.414G>T p.L138F RefSeq GRCh38/hg38
XM_017024919 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58696702G>T c.414G>T p.L138F RefSeq GRCh38/hg38
XM_017024915 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_006722001 chr17:g.58696702G>T c.414G>T p.L138F RefSeq GRCh38/hg38
NM_058216 chr17:g.58696702G>T c.414G>T p.L138F RefSeq GRCh38/hg38
XM_011525092.2 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_006722004.3 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_017024916 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58696702G>T c.414G>T p.L138F RefSeq GRCh38/hg38
XM_017024917 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_017024914.1 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_011525094.3 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_017024918.2 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58696702G>T c.414G>T p.L138F RefSeq GRCh38/hg38
XM_006722005 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_011525093 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58696702G>T c.414G>T p.L138F RefSeq GRCh38/hg38
XM_017024918 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_017024914 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_011525092 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58696702G>T c.414G>T p.L138F RefSeq GRCh38/hg38
XM_011525094 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_017024919.1 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_017024917.1 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_011525093.2 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58696702G>T c.414G>T p.L138F RefSeq GRCh38/hg38
XM_006722005.3 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_011525094.2 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_006722004 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_006722002 chr17:g.58696702G>T c.414G>T p.L138F RefSeq GRCh38/hg38
XM_006722004.4 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_017024916.1 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F 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
RAD51C L138F Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, the expression of RAD51C L138F sensitized RAD51C-deficient cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). 37253112
RAD51C L138F Advanced Solid Tumor sensitive Cisplatin Preclinical - Cell culture Actionable In a preclinical study, the expression of RAD51C L138F sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). 37253112