SQSTM1
sequestosome 1
Summary
This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]
Known Variants617 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73351608 | 5:179,232,064 | A/T | upstream gene variant | — |
| rs72807343 | 5:179,238,261 | C/T | regulatory region variant | — |
| rs116436326 | 5:179,247,612 | C/T | — | likely benign |
| rs73351637 | 5:179,247,718 | G/A | — | likely benign |
| rs2516294 | 5:179,247,747 | G/A | — | benign |
| rs534068817 | 5:179,247,766 | T/C | — | likely benign |
| rs576610830 | 5:179,247,798 | G/C | — | likely benign |
| rs189132632 | 5:179,247,902 | G/C | — | likely benign |
| rs781131232 | 5:179,247,910 | C/T | — | uncertain significance |
| rs748135610 | 5:179,247,911 | C/T | — | uncertain significance |
| rs74523483 | 5:179,247,912 | G/A | — | benign |
| rs370874635 | 5:179,247,919 | G/A | — | uncertain significance |
| rs761120269 | 5:179,247,920 | C/T | — | uncertain significance |
| rs907862704 | 5:179,247,930 | G/C | — | uncertain significance |
| rs1302810798 | 5:179,247,937 | A/G | — | conflicting classifications of pathogenicity |
| rs886039780 | 5:179,247,938 | T/A | missense variant | pathogenic |
| rs1309887153 | 5:179,247,939 | G/A | — | uncertain significance |
| rs377371202 | 5:179,247,941 | C/T | — | uncertain significance |
| rs777501273 | 5:179,247,944 | C/T | — | uncertain significance |
| rs527309027 | 5:179,247,945 | G/A | — | likely benign |
| rs1050354862 | 5:179,247,950 | C/A | — | uncertain significance |
| rs756670021 | 5:179,247,951 | C/T | — | likely benign |
| rs778461636 | 5:179,247,952 | G/T | — | uncertain significance |
| rs745545107 | 5:179,247,958 | G/A | — | uncertain significance |
| rs1175359430 | 5:179,247,960 | C/T | — | likely benign |
| rs1757750915 | 5:179,247,961 | T/C | — | uncertain significance |
| rs1295820640 | 5:179,247,962 | A/G | — | uncertain significance |
| rs777193579 | 5:179,247,967 | C/T | — | likely benign |
| rs1476097073 | 5:179,247,969 | G/C | — | likely benign |
| rs748465743 | 5:179,247,970 | G/C | — | uncertain significance |
| rs866832054 | 5:179,247,971 | G/T | — | uncertain significance |
| rs770428754 | 5:179,247,972 | C/T | — | uncertain significance |
| rs2480198674 | 5:179,247,973 | A/G | — | uncertain significance |
| rs1007964808 | 5:179,247,975 | G/A | — | likely benign |
| rs1040794731 | 5:179,247,979 | G/A | — | uncertain significance |
| rs773552098 | 5:179,247,982 | G/A | — | uncertain significance |
| rs141502868 | 5:179,247,986 | C/T | — | uncertain significance |
| rs902195752 | 5:179,247,989 | G/A | — | uncertain significance |
| rs1582002994 | 5:179,247,993 | G/A | — | likely benign |
| rs766419538 | 5:179,248,005 | C/T | — | likely benign |
| rs774460525 | 5:179,248,008 | C/T | — | likely benign |
| rs1353365075 | 5:179,248,009 | T/C | — | uncertain significance |
| rs2113479661 | 5:179,248,014 | C/T | — | likely benign |
| rs759823891 | 5:179,248,020 | C/A | — | uncertain significance |
| rs752506754 | 5:179,248,021 | C/T | — | uncertain significance |
| rs1012113887 | 5:179,248,022 | C/G | — | uncertain significance |
| rs755859379 | 5:179,248,023 | C/G | — | likely benign |
| rs764111892 | 5:179,248,024 | G/A | — | uncertain significance |
| rs2480198995 | 5:179,248,032 | G/A | — | likely benign |
| rs1156716975 | 5:179,248,033 | G/T | — | uncertain significance |
| rs200396166 | 5:179,248,034 | C/T | missense variant | pathogenic |
| rs2480199053 | 5:179,248,040 | C/G | — | uncertain significance |
| rs376158712 | 5:179,248,042 | G/A | — | likely benign |
| rs1298281008 | 5:179,248,049 | C/A | — | uncertain significance |
| rs1757755029 | 5:179,248,050 | G/T | — | likely benign |
| rs1378410118 | 5:179,248,052 | C/T | — | uncertain significance |
| rs1449666849 | 5:179,248,053 | G/A | — | likely benign |
| rs1377640860 | 5:179,248,057 | C/T | — | uncertain significance |
| rs745356508 | 5:179,248,058 | C/T | — | uncertain significance |
| rs1757755654 | 5:179,248,063 | C/T | — | uncertain significance |
| rs2480199234 | 5:179,248,069 | G/C | — | uncertain significance |
| rs1292351826 | 5:179,248,072 | C/T | — | uncertain significance |
| rs1320111508 | 5:179,248,073 | G/C | — | uncertain significance |
| rs779786150 | 5:179,248,075 | C/G | — | uncertain significance |
| rs1258824064 | 5:179,248,083 | C/T | — | likely benign |
| rs748555662 | 5:179,248,090 | G/T | — | uncertain significance |
| rs1241285995 | 5:179,248,094 | C/T | — | uncertain significance |
| rs1033321881 | 5:179,248,096 | C/T | — | likely benign |
| rs886060501 | 5:179,248,101 | C/A | — | uncertain significance |
| rs773605598 | 5:179,248,107 | G/C | — | likely benign |
| rs1411304344 | 5:179,248,114 | C/T | — | uncertain significance |
| rs749801323 | 5:179,248,117 | G/A | — | uncertain significance |
| rs767340839 | 5:179,248,119 | C/T | — | likely benign |
| rs774355338 | 5:179,248,121 | G/T | — | conflicting classifications of pathogenicity |
| rs759558250 | 5:179,248,122 | C/T | — | likely benign |
| rs1278023995 | 5:179,248,125 | C/T | — | likely benign |
| rs2480199628 | 5:179,248,128 | G/A | — | likely benign |
| rs1486612052 | 5:179,248,129 | G/A | — | uncertain significance |
| rs1329987766 | 5:179,248,130 | C/A | — | uncertain significance |
| rs986341874 | 5:179,248,131 | G/A | — | likely benign |
| rs2113480146 | 5:179,248,132 | C/T | — | uncertain significance |
| rs2480199650 | 5:179,248,136 | A/G | — | uncertain significance |
| rs1449269769 | 5:179,248,140 | C/G | — | uncertain significance |
| rs1757759029 | 5:179,248,143 | T/C | — | likely pathogenic |
| rs1286712928 | 5:179,248,147 | C/T | — | uncertain significance |
| rs912066047 | 5:179,248,148 | G/C | — | conflicting classifications of pathogenicity |
| rs1757759303 | 5:179,248,150 | G/A | — | uncertain significance |
| rs752618979 | 5:179,248,152 | C/G | — | likely benign |
| rs869101530 | 5:179,248,153 | G/C | — | likely benign |
| rs1757759608 | 5:179,248,155 | G/C | — | likely benign |
| rs2480199787 | 5:179,248,157 | A/C | — | likely benign |
| rs1757759662 | 5:179,248,159 | C/G | — | likely benign |
| rs2480199802 | 5:179,248,160 | G/T | — | likely benign |
| rs4700700 | 5:179,248,257 | A/G | — | benign |
| rs533083115 | 5:179,248,260 | G/A | — | likely benign |
| rs114725045 | 5:179,249,827 | T/C | — | benign |
| rs1417149265 | 5:179,249,947 | A/G | — | likely benign |
| rs2113484953 | 5:179,249,949 | A/G | — | uncertain significance |
| rs2480208530 | 5:179,249,950 | C/T | — | likely benign |
| rs370778198 | 5:179,249,954 | C/G | — | likely benign |
Showing 100 of 617 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.