RAD51B

RAD51 paralog B

Summary

The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016]

Known Variants175 total

rsidPosition (GRCh37)AllelesClassClinVar
rs100977428814:68,290,267A/Guncertain significance
rs3458384614:68,290,285G/Aconflicting classifications of pathogenicity
rs76489640214:68,290,344G/Asplice region variantpathogenic
rs3435563314:68,290,369T/Cbenign
rs1778312414:68,290,372T/Gbenign
rs2860498414:68,290,426T/Cbenign
rs2862356714:68,290,464G/Abenign
rs800608914:68,290,520T/Gbenign
rs801139314:68,291,898C/Tbenign
rs801169014:68,291,907G/Abenign
rs7941555714:68,291,963T/Abenign
rs57417891114:68,292,119T/Clikely benign
rs11413173414:68,292,187T/Cbenign
rs76689704114:68,292,211A/Guncertain significance
rs92525431614:68,292,230G/Auncertain significance
rs20035569714:68,292,235C/Tuncertain significance
rs18481592814:68,301,764G/Tbenign
rs3518395014:68,301,776C/Tbenign
rs77374280614:68,301,801A/Guncertain significance
rs19005929114:68,301,824G/Aconflicting classifications of pathogenicity
rs148409162014:68,301,893G/Auncertain significance
rs18171488414:68,301,921A/Gbenign
rs1778316014:68,302,127A/Gbenign
rs96170014:68,331,437G/Abenign
rs147493914:68,331,675A/Tbenign
rs250308317514:68,331,762A/Guncertain significance
rs15092823114:68,331,765A/Tuncertain significance
rs20074147614:68,331,840G/Auncertain significance
rs146470198814:68,331,858T/Cuncertain significance
rs75339334414:68,331,859A/Gconflicting classifications of pathogenicity
rs37520367614:68,331,888T/Clikely benign
rs11171047114:68,332,102C/Abenign
rs490253014:68,352,323A/Gbenign
rs3508091714:68,352,560G/Abenign
rs54828041114:68,352,609G/Alikely benign
rs3409440114:68,352,648T/Gbenign
rs14042345614:68,352,656A/Cbenign
rs146052425414:68,352,662G/Cuncertain significance
rs2891027514:68,352,672G/Abenign
rs19998117814:68,352,674C/Tuncertain significance
rs801700714:68,352,905G/Abenign
rs37137658714:68,353,744A/Cconflicting classifications of pathogenicity
rs2890816814:68,353,784G/Tconflicting classifications of pathogenicity
rs250316443014:68,353,857G/Auncertain significance
rs14915470214:68,353,864G/Alikely benign
rs1710474414:68,353,879G/Abenign
rs250316481414:68,353,892A/Guncertain significance
rs3459423414:68,353,893G/Alikely benign
rs3392936614:68,353,913T/Glikely benign
rs3417558014:68,353,939T/Clikely benign
rs490253114:68,354,152C/Tbenign
rs443672214:68,375,615A/Gintron variant
rs200919114:68,377,707G/Aintron variant
rs7272514114:68,405,244A/Cintron variant
rs715191714:68,413,769G/Tintron variant
rs1710480014:68,420,779T/Cintron variant
rs11359958614:68,435,810C/G
rs1778330414:68,451,248A/T
rs1184876914:68,463,352G/Aintron variant
rs7272515114:68,466,362G/Aregulatory region variant
rs11740544714:68,466,900T/Clikely benign
rs6041508514:68,471,070A/Tintron variant
rs7272515614:68,474,878T/Cintron variant
rs7272515814:68,476,880T/Cintron variant
rs209335814:68,482,312T/Cintron variant
rs1115871614:68,493,158G/Aintron variant
rs1012961214:68,494,470C/G
rs7272516814:68,500,954C/Tintron variant
rs7272517014:68,501,714C/Aintron variant
rs1013686814:68,514,238A/C
rs2847036514:68,515,956A/Gintron variant
rs657381414:68,517,763T/A
rs802220614:68,520,906G/Aintron variant
rs18464464514:68,549,210T/Gintron variant
rs7477319014:68,554,769A/Gintron variant
rs18639509914:68,557,839C/Tintron variant
rs14440352314:68,559,336T/Cintron variant
rs247877714:68,629,267C/Tintron variant
rs153645714:68,651,341C/G
rs5933357314:68,651,342C/G
rs258880814:68,660,181G/Abenign
rs258880914:68,660,428T/Cintron variantbenign
rs6700796914:68,662,643C/T
rs275940514:68,669,308T/G
rs127465314:68,676,778G/Aintron variant
rs129652714:68,685,460T/Cintron variant
rs131491314:68,699,594C/Tregulatory region variant
rs131492114:68,715,181A/Gregulatory region variant
rs2849822314:68,728,425C/Tintron variant
rs1710527814:68,728,479T/Cintron variant
rs7443544714:68,736,448C/Tintron variant
rs1013149014:68,743,307A/T
rs378409914:68,749,927G/Aregulatory region variant
rs800896114:68,752,643C/Tregulatory region variant
rs91126314:68,753,593C/Tregulatory region variant
rs210404714:68,754,417T/A
rs188501314:68,754,695G/Aintron variant
rs53334849014:68,758,509T/Clikely benign
rs3451841314:68,758,518T/Cbenign
rs3457325614:68,758,552T/Cbenign

Showing 100 of 175 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.