RAD50
RAD50 double strand break repair protein
Summary
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]
Known Variants3,072 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2706335 | 5:131,892,357 | C/T | — | benign |
| rs104895041 | 5:131,892,733 | C/A | — | not provided |
| rs4526098 | 5:131,892,979 | G/G | — | benign |
| rs2479573713 | 5:131,893,014 | A/G | — | uncertain significance |
| rs1580974320 | 5:131,893,016 | C/T | — | uncertain significance |
| rs1750018146 | 5:131,893,020 | T/A | — | uncertain significance |
| rs1554096631 | 5:131,893,021 | C/T | — | conflicting classifications of pathogenicity |
| rs2149830047 | 5:131,893,022 | C/T | — | likely benign |
| rs2149830050 | 5:131,893,023 | C/T | — | uncertain significance |
| rs1277596729 | 5:131,893,024 | G/T | — | uncertain significance |
| rs2149830059 | 5:131,893,025 | G/A | — | likely benign |
| rs1060501972 | 5:131,893,026 | A/G | — | uncertain significance |
| rs781295348 | 5:131,893,028 | C/A | — | likely benign |
| rs756334508 | 5:131,893,029 | G/A | — | uncertain significance |
| rs1750018807 | 5:131,893,030 | A/G | — | uncertain significance |
| rs1580974353 | 5:131,893,032 | A/G | — | uncertain significance |
| rs2479573805 | 5:131,893,033 | A/G | — | uncertain significance |
| rs1750018990 | 5:131,893,034 | G/C | — | uncertain significance |
| rs2479573814 | 5:131,893,035 | A/G | — | uncertain significance |
| rs1580974357 | 5:131,893,036 | T/C | — | uncertain significance |
| rs1280108868 | 5:131,893,037 | G/A | — | uncertain significance |
| rs2479573824 | 5:131,893,039 | G/A | — | uncertain significance |
| rs146833872 | 5:131,893,040 | C/T | — | likely benign |
| rs1750019317 | 5:131,893,041 | A/C | — | uncertain significance |
| rs1561626939 | 5:131,893,048 | G/A | — | uncertain significance |
| rs876660015 | 5:131,893,049 | C/T | — | likely benign |
| rs755022536 | 5:131,893,050 | G/C | — | uncertain significance |
| rs1580974376 | 5:131,893,051 | T/G | — | uncertain significance |
| rs1580974379 | 5:131,893,052 | G/A | — | conflicting classifications of pathogenicity |
| rs1750020062 | 5:131,893,054 | G/A | — | uncertain significance |
| rs779005784 | 5:131,893,055 | G/A | — | conflicting classifications of pathogenicity |
| rs1750020259 | 5:131,893,056 | A/G | — | uncertain significance |
| rs1561626972 | 5:131,893,057 | G/A | — | uncertain significance |
| rs2149830099 | 5:131,893,058 | T/A | — | uncertain significance |
| rs2479573926 | 5:131,893,059 | T/G | — | uncertain significance |
| rs771506747 | 5:131,893,061 | T/G | — | uncertain significance |
| rs1750020437 | 5:131,893,062 | G/A | — | uncertain significance |
| rs1554096634 | 5:131,893,063 | G/A | — | uncertain significance |
| rs2149830106 | 5:131,893,065 | A/G | — | uncertain significance |
| rs942335090 | 5:131,893,066 | T/C | — | uncertain significance |
| rs2149830108 | 5:131,893,067 | A/C | — | likely benign |
| rs1449159448 | 5:131,893,068 | G/T | — | pathogenic |
| rs746681057 | 5:131,893,069 | A/G | — | uncertain significance |
| rs1554096636 | 5:131,893,070 | G/A | — | conflicting classifications of pathogenicity |
| rs770566177 | 5:131,893,071 | G/T | — | uncertain significance |
| rs775894807 | 5:131,893,072 | A/G | — | uncertain significance |
| rs1388089645 | 5:131,893,073 | C/T | — | likely benign |
| rs1580974425 | 5:131,893,074 | A/G | — | uncertain significance |
| rs1554096640 | 5:131,893,075 | A/G | — | uncertain significance |
| rs1750021195 | 5:131,893,077 | G/A | — | uncertain significance |
| rs1554096641 | 5:131,893,078 | A/T | — | uncertain significance |
| rs545546432 | 5:131,893,079 | T/G | — | uncertain significance |
| rs1325544381 | 5:131,893,080 | A/C | — | uncertain significance |
| rs2479574022 | 5:131,893,082 | G/A | — | likely benign |
| rs2149830133 | 5:131,893,085 | A/G | — | likely benign |
| rs1561627016 | 5:131,893,089 | A/G | — | uncertain significance |
| rs1750021668 | 5:131,893,090 | T/C | — | uncertain significance |
| rs765892279 | 5:131,893,091 | C/G | — | uncertain significance |
| rs1750021820 | 5:131,893,092 | A/G | — | uncertain significance |
| rs2149830142 | 5:131,893,093 | C/T | — | uncertain significance |
| rs868228536 | 5:131,893,097 | C/A | — | uncertain significance |
| rs2149830144 | 5:131,893,100 | C/A | — | uncertain significance |
| rs1554096648 | 5:131,893,101 | A/G | — | uncertain significance |
| rs1274079017 | 5:131,893,102 | G/T | — | uncertain significance |
| rs1554096649 | 5:131,893,103 | C/T | — | likely benign |
| rs1321131254 | 5:131,893,104 | C/T | — | uncertain significance |
| rs1229919059 | 5:131,893,105 | C/G | — | uncertain significance |
| rs1750022371 | 5:131,893,106 | C/T | — | likely benign |
| rs2149830162 | 5:131,893,107 | C/A | — | uncertain significance |
| rs2149830164 | 5:131,893,109 | T/C | — | likely benign |
| rs1554096651 | 5:131,893,110 | A/T | — | uncertain significance |
| rs1580974498 | 5:131,893,111 | C/A | — | uncertain significance |
| rs1554096653 | 5:131,893,112 | A/G | — | likely benign |
| rs2479574179 | 5:131,893,113 | A/G | — | uncertain significance |
| rs1060501950 | 5:131,893,114 | T/G | — | uncertain significance |
| rs2479574190 | 5:131,893,116 | T/G | — | uncertain significance |
| rs876659395 | 5:131,893,118 | G/A | — | likely benign |
| rs1554096654 | 5:131,893,119 | G/C | — | uncertain significance |
| rs1251435053 | 5:131,893,120 | T/C | — | uncertain significance |
| rs2149830175 | 5:131,893,121 | T/C | — | likely benign |
| rs876660763 | 5:131,893,125 | C/T | — | uncertain significance |
| rs1750022697 | 5:131,893,126 | C/T | — | uncertain significance |
| rs762329874 | 5:131,893,127 | C/T | — | likely benign |
| rs767540717 | 5:131,893,128 | A/G | — | uncertain significance |
| rs750480943 | 5:131,893,129 | A/G | — | uncertain significance |
| rs878854784 | 5:131,893,130 | T/A | — | uncertain significance |
| rs756353698 | 5:131,893,134 | G/A | — | uncertain significance |
| rs1554096657 | 5:131,893,135 | C/T | — | uncertain significance |
| rs766694888 | 5:131,893,136 | G/A | — | likely benign |
| rs1554096658 | 5:131,893,137 | G/A | — | uncertain significance |
| rs754054728 | 5:131,893,139 | A/T | — | conflicting classifications of pathogenicity |
| rs2479574281 | 5:131,893,140 | A/C | — | uncertain significance |
| rs754823399 | 5:131,893,142 | G/C | — | uncertain significance |
| rs864622474 | 5:131,893,143 | A/G | — | uncertain significance |
| rs369819304 | 5:131,893,144 | C/T | — | uncertain significance |
| rs1750023773 | 5:131,893,145 | G/A | — | uncertain significance |
| rs1339714611 | 5:131,893,146 | G/T | — | likely pathogenic |
| rs758327485 | 5:131,893,148 | A/G | — | uncertain significance |
| rs2149830214 | 5:131,893,149 | A/G | — | uncertain significance |
| rs587781409 | 5:131,893,150 | G/A | — | uncertain significance |
Showing 100 of 3,072 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.