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Gene RAD51C
Variant H192_R193delinsGG
Impact List indel
Protein Effect no effect
Gene Variant Descriptions RAD51C H192_R193delinsGG results in a deletion of two amino acids in the Rad51c protein combined with the insertion of two new amino acids in the same location (UniProt.org). H192_R193delinsGG, 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 H192_R193delinsGG

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Transcript NM_058216.3
gDNA chr17:g.58703198_58703203delinsGGTGGT
cDNA c.574_579delinsGGTGGT
Protein p.H192_R193delinsGG
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722001.5 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
NM_058216 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722001 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722002 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG 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 H192_R193delinsGG no effect
RAD51C H192_R193delinsGG RAD51C R193* RAD51C R193L RAD51C R193W