RAD51C L219S
Gene Variant Detail

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Gene RAD51C
Variant L219S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RAD51C L219S does not lie within any known functional domains of the Rad51c protein (UniProt.org). L219S results in a loss of Rad51 foci formation in cell culture (PMID: 22451500) and decreased interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay, but results in homologous recombination activity similar to wild-type Rad51c and rescues survival in Rad51c-null cells in culture (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown.
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C L219S

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Transcript NM_058216.3
gDNA chr17:g.58703280T>C
cDNA c.656T>C
Protein p.L219S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216.2 chr17:g.58703280T>C c.656T>C p.L219S RefSeq GRCh38/hg38
XM_006722001 chr17:g.58703280T>C c.656T>C p.L219S RefSeq GRCh38/hg38
XM_006722002 chr17:g.58703280T>C c.656T>C p.L219S RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58703280T>C c.656T>C p.L219S RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58703280T>C c.656T>C p.L219S RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58703280T>C c.656T>C p.L219S RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58703280T>C c.656T>C p.L219S RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58703280T>C c.656T>C p.L219S RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58703280T>C c.656T>C p.L219S RefSeq GRCh38/hg38
NM_058216 chr17:g.58703280T>C c.656T>C p.L219S RefSeq GRCh38/hg38

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