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Gene | RAD51B |
Variant | R8* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51B R8* results in a premature truncation of the Rad51b protein at aa 8 of 384 (UniProt.org). R8* has not been characterized, however, due to the effects of truncation mutations downstream of R8 (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 R8* |
Transcript | NM_133510.4 |
gDNA | chr14:g.67823565C>T |
cDNA | c.22C>T |
Protein | p.R8* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |