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Gene | RAD51C |
Variant | E80* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C E80* results in a premature truncation of the Rad51c protein at amino acid 80 of 376 (UniProt.org). E80* confers a loss of function to the Rad51c protein as indicated by decreased binding to Rad51b, Xrcc3, and Rad51d in yeast two-hybrid assays (PMID: 14704354). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C E80* |
Transcript | NM_058216.3 |
gDNA | chr17:g.58695023G>T |
cDNA | c.238G>T |
Protein | p.E80* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011525093.2 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_011525093 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_011525094.3 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58695023G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_006722001 | chr17:g.58695023G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_006722005.3 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58695023G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
NM_002876.4 | chr17:g.58695023G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
NM_002876 | chr17:g.58695023G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
NM_058216 | chr17:g.58695023G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_011525092 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58695023G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58695023G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_017024916 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_006722005 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_011525094 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58695023G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_017024919 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58695023G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_017024917.1 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
NM_002876.3 | chr17:g.58695023G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_017024916.1 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_011525092.2 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_017024919.1 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_017024914.1 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_006722004 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58695023G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_006722002 | chr17:g.58695023G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_017024914 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_017024918 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_011525094.2 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_006722004.4 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_017024917 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_017024915 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_006722004.3 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_017024915.1 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
XM_017024918.2 | chr17:g.58703213G>T | c.238G>T | p.E80* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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