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Gene | RAD51C |
Variant | S105* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51C S105* results in a premature truncation of the Rad51c protein at amino acid 105 of 376 (UniProt.org). S105* has not been characterized however, due to the effects of other truncation mutations downstream of S105 (PMID: 28588062), is predicted to lead to a loss of Rad51c protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C S105* |
Transcript | NM_058216.3 |
gDNA | chr17:g.58695099C>A |
cDNA | c.314C>A |
Protein | p.S105* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002876.3 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
XM_006722002 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
NM_002876.4 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
NM_002876 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
NM_058216 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
XM_006722001 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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