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Gene | RAD51B |
Variant | L103* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51B L103* results in a premature truncation of the Rad51b protein at amino acid 103 of 384 (UniProt.org). L103* is predicted to lead to a loss of Rad51b protein function as the corresponding variant in an alternative isoform (L103*) fails to delay G1 cell cycle transition and does not induce apoptosis upon irradiation in cultured cells (PMID: 9788630). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51B mutant RAD51B inact mut RAD51B L103* |
Transcript | NM_133509.5 |
gDNA | chr14:g.67835188_67835190delCTCinsTAA |
cDNA | c.307_309delCTCinsTAA |
Protein | p.L103* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |