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 | RAD51B |
Variant | Y46* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51B Y46* results in a premature truncation of the Rad51b protein at aa 46 of 384 (UniProt.org). Y46* has not been characterized, however, due to the effects of truncation mutations downstream of Y46 (PMID: 9788630), is predicted to lead to a loss of Rad51b protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51B mutant RAD51B inact mut RAD51B Y46* |
Transcript | NM_133509.5 |
gDNA | chr14:g.67825517T>A |
cDNA | c.138T>A |
Protein | p.Y46* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002877.5 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_133509.5 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_133510 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321818.2 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321819 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
XM_011537050 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321819.1 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321812 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_133509 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321809 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
XM_011537051 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321821 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321814 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321819.1 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
XM_017021545.2 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
XM_011537050.3 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321810.2 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321809.1 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321814.2 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_133509.3 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_002877 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321818.1 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321810.1 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321821.2 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321812.1 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321810 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321821.1 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321814.1 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
XM_017021545 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321809.2 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321812.1 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_133510.3 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_002877.6 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_001321818 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
NM_133510.4 | chr14:g.67825517T>A | c.138T>A | p.Y46* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RAD51B Y46* | loss of function - predicted | Olaparib |