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Gene RAD51C
Variant R193W
Impact List missense
Protein Effect no effect
Gene Variant Descriptions RAD51C R193W does not lie within any known functional domains of the Rad51c protein (UniProt.org). R193W, described as a reversion mutation, has no effect on Rad51c protein function, as demonstrated by restoration of homologous recombination function similar to wild-type Rad51c in cultured cells, and is associated with acquired resistance to PARP inhibitors (PMID: 28588062).
Associated Drug Resistance Y
Category Variants Paths

RAD51C mutant RAD51C R193W

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Transcript NM_058216.3
gDNA chr17:g.58703201_58703203delCGAinsTGG
cDNA c.577_579delCGAinsTGG
Protein p.R193W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722001.4 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
XM_006722001 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
NM_058216 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
XM_006722002 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
RAD51C R193W no effect
RAD51C H192_R193delinsGG RAD51C R193* RAD51C R193L RAD51C R193W