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Gene | RAD51C |
Variant | P247L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C P247L does not lie within any known functional domains of the Rad51c protein (UniProt.org). P247L is conflicting as it demonstrates homologous recombination activity similar to wild-type in one cell line but reduced in another, rescues survival in Rad51c-null cells in culture, and results in variable interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C P247L |
Transcript | NM_058216.3 |
gDNA | chr17:g.58709893C>T |
cDNA | c.740C>T |
Protein | p.P247L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_058216.2 | chr17:g.58709893C>T | c.740C>T | p.P247L | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58709893C>T | c.740C>T | p.P247L | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58709893C>T | c.740C>T | p.P247L | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58709893C>T | c.740C>T | p.P247L | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58709893C>T | c.740C>T | p.P247L | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58709893C>T | c.740C>T | p.P247L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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