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Gene | RAD51C |
Variant | A324T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C A324T does not lie within any known functional domains of the Rad51c protein (UniProt.org). The functional effect of A324T is conflicting as it demonstrates homologous recombination activity similar to wild-type Rad51c in one cell line but reduced activity in another cell line, results in variable binding to Rad51d and reduced binding to Rad51b but binds to Xrcc3 to similar levels of wild-type protein in yeast assays, 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 A324T |
Transcript | NM_058216.3 |
gDNA | chr17:g.58732488G>A |
cDNA | c.970G>A |
Protein | p.A324T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_058216 | chr17:g.58732488G>A | c.970G>A | p.A324T | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58732488G>A | c.970G>A | p.A324T | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58732488G>A | c.970G>A | p.A324T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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