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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 |