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Gene Symbol RAD51B
Synonyms R51H2 | RAD51L1 | REC2
Gene Description RAD51B, RAD51 paralog B, plays a role in homologous recombination repair of double-strand DNA breaks (PMID: 21821141, PMID: 32098697). RAD51B mutations are associated with susceptibility to breast cancer (PMID: 24139550, PMID: 29255180) and overexpression has been correlated with a favorable prognosis in non-small cell lung cancer (PMID: 29207658) and a poor prognosis in gastric cancer (PMID: 27651161).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
5890 14 14q24.1 NM_133509 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
amp none no effect RAD51B amplification indicates an increased number of copies of the RAD51B gene. However, the mechanism causing the increase is unspecified.
del deletion loss of function RAD51B del indicates a deletion of the RAD51B gene.
fusion fusion unknown RAD51B fusion indicates a fusion of the RAD51B gene, but the fusion partner is unknown.
inact mut unknown loss of function RAD51B inact mut indicates that this variant results in a loss of function of the Rad51b protein. However, the specific amino acid change has not been identified.
L103* nonsense loss of function - predicted 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).
loss unknown loss of function RAD51B loss indicates loss of the RAD51B gene, mRNA, and protein.
mutant unknown unknown RAD51B mutant indicates an unspecified mutation in the RAD51B gene.
over exp none no effect RAD51B over exp indicates an over expression of the Rad51b protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
Q371* nonsense unknown RAD51B Q371* results in a premature truncation of the Rad51b protein at amino acid 371 of 384 (UniProt.org). Q371* has been identified in sequencing studies (PMID: 30205045, PMID: 36277904), but has not been biochemically characterized and therefore, its effect on Rad51b protein function is unknown (PubMed, Oct 2024).
R8* nonsense loss of function - predicted 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.
rearrange unknown unknown RAD51B rearrange indicates an unspecified rearrangement of the RAD51B gene.
V207L missense unknown RAD51B V207L does not lie within any known functional domains of the Rad51b protein (UniProt.org). V207L has been identified in sequencing studies (PMID: 26261251, PMID: 32659497), but has not been biochemically characterized and therefore, its effect on Rad51b protein function is unknown (PubMed, Oct 2024).
wild-type none no effect Wild-type RAD51B indicates that no mutation has been detected within the RAD51B gene.
Y46* nonsense loss of function - predicted 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.