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Gene | RAD51C |
Variant | R319Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C R319Q does not lie within any known functional domains of the Rad51c protein (UniProt.org). R319Q has been identified in sequencing studies (PMID: 26261251), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C R319Q |
Transcript | NM_058216.3 |
gDNA | chr17:g.58724091G>A |
cDNA | c.956G>A |
Protein | p.R319Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722001 | chr17:g.58724091G>A | c.956G>A | p.R319Q | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58724091G>A | c.956G>A | p.R319Q | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58724091G>A | c.956G>A | p.R319Q | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58724091G>A | c.956G>A | p.R319Q | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58724091G>A | c.956G>A | p.R319Q | RefSeq | GRCh38/hg38 |
NM_058216 | chr17:g.58724091G>A | c.956G>A | p.R319Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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