RAD51C L138F
Gene Variant Detail

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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 rescues survival in Rad51c-null cells and results in homologous recombination activity similar to wild-type Rad51c in one cell line but deficient activity in another in one study (PMID: 36099300), but demonstrates decreased homology-directed repair activity in another study (PMID: 37253112), decreased interaction with Xrcc2, Xrcc3, and Rad51d in culture (PMID: 37253112) and Rad51b, Rad51d, and Xrcc3 in a yeast assay (PMID: 36099300), decreased Rad51 foci formation (PMID: 20400964, PMID: 37253112), and fails to rescue mitomycin C hypersensitivity in culture (PMID: 20400964), and therefore, its effect on Rad51c protein function is unknown.
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C L138F

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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
NM_058216.3 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_017024916 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_017024917.1 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_006722005 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_017024917 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_017024918 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_017024915 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_006722005.3 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_006722001.5 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_017024915.1 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_011525092.2 chr17:g.58709916_58709918delCTGinsTTT c.412_414delCTGinsTTT p.L138F RefSeq GRCh38/hg38
XM_006722004.4 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
NM_058216.2 chr17:g.58696702G>T c.414G>T p.L138F RefSeq GRCh38/hg38
XM_006722001 chr17:g.58696702G>T c.414G>T p.L138F RefSeq GRCh38/hg38
XM_017024914.1 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_017024916.1 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_017024914 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_017024919.1 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_011525092 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_011525093 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
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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