Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | RAD51C |
Variant | E146* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51C E146* results in a premature truncation of the Rad51c protein at amino acid 146 of 376 (UniProt.org). E146* is predicted to lead to a loss of Rad51c protein function as indicated by decreased binding to Rad51b in a yeast two-hybrid assay (PMID: 14704354). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C E146* |
Transcript | NM_058216.3 |
gDNA | chr17:g.58696724G>T |
cDNA | c.436G>T |
Protein | p.E146* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722001.5 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
NM_058216 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
XM_006722002 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
XM_006722001 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|