RAD54B
RAD54 homolog B
Summary
The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]
Known Variants75 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs528440749 | 8:95,384,430 | G/C | — | uncertain significance |
| rs116312454 | 8:95,384,492 | T/C | — | likely benign |
| rs138789279 | 8:95,384,529 | T/C | — | uncertain significance |
| rs371532293 | 8:95,384,583 | C/T | — | likely benign |
| rs2487795392 | 8:95,384,588 | G/T | — | uncertain significance |
| rs374561449 | 8:95,384,592 | C/T | — | likely benign |
| rs1810461624 | 8:95,384,595 | T/C | — | uncertain significance |
| rs2487804646 | 8:95,390,563 | C/T | — | uncertain significance |
| rs114429444 | 8:95,390,591 | T/C | — | likely benign |
| rs749959340 | 8:95,390,820 | G/A | — | uncertain significance |
| rs2487805357 | 8:95,390,856 | A/G | — | uncertain significance |
| rs716770 | 8:95,390,921 | C/T | — | benign |
| rs10504936 | 8:95,392,055 | C/T | — | benign |
| rs772685781 | 8:95,392,432 | T/A | — | uncertain significance |
| rs747079772 | 8:95,392,441 | G/A | — | uncertain significance |
| rs779510802 | 8:95,392,479 | A/C | — | uncertain significance |
| rs36093849 | 8:95,392,512 | A/G | — | uncertain significance |
| rs759103066 | 8:95,392,534 | T/C | — | likely benign |
| rs1810706015 | 8:95,392,572 | T/C | — | uncertain significance |
| rs147142817 | 8:95,392,575 | C/T | — | uncertain significance |
| rs746694103 | 8:95,392,576 | G/A | — | uncertain significance |
| rs76289011 | 8:95,398,824 | A/G | — | — |
| rs2470741 | 8:95,399,045 | C/T | — | benign |
| rs375934106 | 8:95,399,231 | C/T | — | uncertain significance |
| rs757450496 | 8:95,399,242 | G/A | — | uncertain significance |
| rs2487819069 | 8:95,399,245 | A/G | — | uncertain significance |
| rs149443901 | 8:95,399,267 | G/C | — | uncertain significance |
| rs2487819404 | 8:95,399,352 | T/A | — | uncertain significance |
| rs2470740 | 8:95,399,551 | A/T | — | benign |
| rs16916788 | 8:95,399,618 | C/T | — | benign |
| rs12681366 | 8:95,401,265 | T/A | — | — |
| rs114216685 | 8:95,403,868 | T/C | missense variant | pathogenic |
| rs2487826115 | 8:95,403,938 | A/T | — | uncertain significance |
| rs115960331 | 8:95,404,100 | C/T | — | benign |
| rs28398457 | 8:95,404,375 | A/C | — | benign |
| rs182087749 | 8:95,405,492 | C/G | intron variant | — |
| rs16916798 | 8:95,406,276 | A/G | — | benign |
| rs28595703 | 8:95,406,431 | A/C | — | benign |
| rs779581082 | 8:95,411,703 | A/C | — | uncertain significance |
| rs119490107 | 8:95,411,768 | C/A | missense variant | pathogenic |
| rs2450560 | 8:95,412,238 | C/T | — | benign |
| rs35868909 | 8:95,412,622 | C/T | — | benign |
| rs145642488 | 8:95,412,639 | T/C | — | uncertain significance |
| rs754033675 | 8:95,416,315 | T/C | — | uncertain significance |
| rs1343469716 | 8:95,416,341 | C/T | — | uncertain significance |
| rs1811326406 | 8:95,416,374 | A/C | — | uncertain significance |
| rs1248667343 | 8:95,416,459 | C/A | — | uncertain significance |
| rs2291439 | 8:95,419,698 | A/G | — | benign |
| rs748992142 | 8:95,419,756 | G/A | — | uncertain significance |
| rs1443440448 | 8:95,419,765 | A/T | — | uncertain significance |
| rs113276250 | 8:95,419,794 | C/T | — | benign |
| rs748561168 | 8:95,419,795 | G/A | — | uncertain significance |
| rs139411957 | 8:95,419,819 | A/G | — | uncertain significance |
| rs2487852351 | 8:95,419,858 | A/G | — | uncertain significance |
| rs987582833 | 8:95,419,877 | T/A | — | uncertain significance |
| rs771068379 | 8:95,419,898 | G/T | — | likely benign |
| rs7824591 | 8:95,423,293 | C/T | — | benign |
| rs2487859341 | 8:95,423,377 | C/A | — | uncertain significance |
| rs2487859398 | 8:95,423,397 | C/T | — | uncertain significance |
| rs1203423242 | 8:95,423,427 | A/G | — | uncertain significance |
| rs773897375 | 8:95,423,492 | G/T | — | uncertain significance |
| rs2930961 | 8:95,443,806 | T/C | downstream gene variant | — |
| rs2919662 | 8:95,470,272 | C/A | — | benign |
| rs1812822366 | 8:95,470,517 | T/C | — | uncertain significance |
| rs115899389 | 8:95,470,528 | G/A | — | uncertain significance |
| rs115900589 | 8:95,470,529 | G/A | — | likely benign |
| rs2919660 | 8:95,470,697 | C/A | — | benign |
| rs28420254 | 8:95,470,741 | T/C | — | benign |
| rs3099397 | 8:95,479,319 | A/G | — | benign |
| rs28910279 | 8:95,479,680 | G/C | — | benign |
| rs371957108 | 8:95,479,685 | G/A | — | uncertain significance |
| rs1426010784 | 8:95,479,688 | T/C | — | uncertain significance |
| rs769043606 | 8:95,479,689 | T/C | — | uncertain significance |
| rs3099398 | 8:95,479,879 | A/G | — | benign |
| rs10216902 | 8:95,479,978 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.