LZTFL1
leucine zipper transcription factor like 1
Summary
This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. [provided by RefSeq, Aug 2020]
Known Variants161 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10490770 | 3:45,864,732 | T/C | downstream gene variant | — |
| rs35624553 | 3:45,867,440 | A/G | 3 prime UTR variant | — |
| rs2529738475 | 3:45,867,813 | T/A | — | uncertain significance |
| rs1035305014 | 3:45,867,820 | C/G | — | uncertain significance |
| rs774387691 | 3:45,867,834 | T/C | — | likely benign |
| rs773028690 | 3:45,868,829 | C/T | — | likely benign |
| rs535240697 | 3:45,868,830 | G/A | — | likely benign |
| rs193075494 | 3:45,868,832 | G/A | — | likely benign |
| rs1700695223 | 3:45,868,862 | C/T | — | likely benign |
| rs2529743840 | 3:45,868,886 | C/T | — | likely benign |
| rs185326114 | 3:45,868,914 | C/T | — | uncertain significance |
| rs1422916311 | 3:45,868,917 | T/C | — | uncertain significance |
| rs1700697159 | 3:45,868,929 | T/C | — | uncertain significance |
| rs765946304 | 3:45,868,931 | C/G | — | uncertain significance |
| rs2125675310 | 3:45,868,937 | T/C | — | likely benign |
| rs2529744367 | 3:45,868,946 | T/C | — | likely benign |
| rs515726136 | 3:45,868,951 | C/A | stop gained | pathogenic |
| rs751242409 | 3:45,868,952 | C/T | — | likely pathogenic |
| rs2529744418 | 3:45,868,954 | G/A | — | uncertain significance |
| rs768813044 | 3:45,869,942 | T/C | — | uncertain significance |
| rs2125676540 | 3:45,869,966 | G/A | — | uncertain significance |
| rs1129183 | 3:45,869,972 | C/T | — | benign |
| rs769782008 | 3:45,869,973 | G/A | — | likely benign |
| rs1182912745 | 3:45,869,982 | T/C | — | likely benign |
| rs751968807 | 3:45,869,984 | T/C | — | uncertain significance |
| rs143138936 | 3:45,869,985 | C/T | — | likely benign |
| rs373034196 | 3:45,869,986 | G/A | — | uncertain significance |
| rs73064420 | 3:45,869,987 | C/T | — | uncertain significance |
| rs1331311491 | 3:45,869,993 | T/C | — | uncertain significance |
| rs777788515 | 3:45,870,007 | T/C | — | uncertain significance |
| rs77717940 | 3:45,870,023 | T/C | — | likely benign |
| rs2529750417 | 3:45,870,026 | C/T | — | uncertain significance |
| rs376002029 | 3:45,870,029 | T/C | — | uncertain significance |
| rs745694278 | 3:45,870,033 | T/C | — | likely benign |
| rs908118734 | 3:45,870,045 | C/G | — | uncertain significance |
| rs1387265123 | 3:45,870,054 | T/C | — | likely benign |
| rs951140170 | 3:45,870,060 | A/G | — | likely benign |
| rs146191659 | 3:45,870,062 | C/T | — | likely benign |
| rs781281594 | 3:45,870,063 | G/A | — | conflicting classifications of pathogenicity |
| rs146835760 | 3:45,870,074 | C/T | — | uncertain significance |
| rs148560000 | 3:45,870,083 | T/C | — | uncertain significance |
| rs1559400866 | 3:45,870,084 | T/G | — | uncertain significance |
| rs1201725995 | 3:45,870,099 | T/C | — | uncertain significance |
| rs1261478047 | 3:45,870,112 | G/A | — | likely benign |
| rs565806184 | 3:45,870,122 | T/C | — | likely benign |
| rs1398739278 | 3:45,870,123 | G/A | — | likely benign |
| rs2529763262 | 3:45,872,395 | C/T | — | likely benign |
| rs1393675370 | 3:45,872,415 | C/A | — | uncertain significance |
| rs781428652 | 3:45,872,422 | C/G | — | uncertain significance |
| rs1700797811 | 3:45,872,450 | T/C | — | likely benign |
| rs376298139 | 3:45,872,451 | A/G | — | uncertain significance |
| rs1700798215 | 3:45,872,457 | G/A | — | uncertain significance |
| rs905184701 | 3:45,872,493 | G/A | — | likely benign |
| rs761416241 | 3:45,872,552 | A/G | — | likely benign |
| rs1575253108 | 3:45,872,556 | C/G | — | likely benign |
| rs2529764384 | 3:45,872,575 | A/G | — | uncertain significance |
| rs200048372 | 3:45,872,578 | G/T | — | likely benign |
| rs2529764469 | 3:45,872,582 | T/A | — | pathogenic |
| rs372888950 | 3:45,872,597 | A/G | — | likely benign |
| rs2125680264 | 3:45,872,631 | C/A | — | likely pathogenic |
| rs1700873415 | 3:45,874,528 | A/T | — | likely benign |
| rs2529777365 | 3:45,874,535 | A/G | — | likely benign |
| rs17855512 | 3:45,874,544 | T/C | — | uncertain significance |
| rs1245151586 | 3:45,874,558 | G/C | — | uncertain significance |
| rs1700874189 | 3:45,874,561 | G/A | — | uncertain significance |
| rs764687946 | 3:45,874,573 | T/C | — | uncertain significance |
| rs1700874586 | 3:45,874,576 | A/G | — | uncertain significance |
| rs762779823 | 3:45,874,578 | T/C | — | likely benign |
| rs1575255216 | 3:45,874,584 | A/C | — | likely benign |
| rs1177169861 | 3:45,874,597 | G/A | — | uncertain significance |
| rs751308861 | 3:45,874,610 | T/C | — | uncertain significance |
| rs2125683119 | 3:45,874,629 | G/C | — | likely benign |
| rs747774371 | 3:45,875,710 | T/C | — | likely benign |
| rs538612017 | 3:45,875,718 | C/A | — | likely benign |
| rs2529786878 | 3:45,875,721 | A/G | — | likely benign |
| rs2529787009 | 3:45,875,730 | C/T | — | likely pathogenic |
| rs1700907670 | 3:45,875,737 | T/A | — | uncertain significance |
| rs9917821 | 3:45,875,738 | T/G | — | likely benign |
| rs1361013160 | 3:45,875,743 | G/T | — | uncertain significance |
| rs770707574 | 3:45,875,751 | C/T | — | likely benign |
| rs774285913 | 3:45,875,753 | C/T | — | uncertain significance |
| rs1360632468 | 3:45,875,754 | T/C | — | likely benign |
| rs1700908749 | 3:45,875,762 | C/T | — | uncertain significance |
| rs536588557 | 3:45,875,774 | C/T | — | uncertain significance |
| rs2529787794 | 3:45,875,777 | G/C | — | uncertain significance |
| rs2125684781 | 3:45,875,781 | T/C | — | likely benign |
| rs2125684786 | 3:45,875,783 | A/G | — | likely benign |
| rs1298265304 | 3:45,875,793 | T/C | — | uncertain significance |
| rs1700909494 | 3:45,875,797 | G/C | — | likely benign |
| rs368274759 | 3:45,877,062 | G/A | — | likely benign |
| rs769327864 | 3:45,877,083 | G/A | stop gained | pathogenic |
| rs1700944956 | 3:45,877,095 | C/T | — | uncertain significance |
| rs890715711 | 3:45,877,102 | G/A | — | likely benign |
| rs2529797382 | 3:45,877,103 | T/A | — | uncertain significance |
| rs1700945171 | 3:45,877,104 | C/T | — | uncertain significance |
| rs748688183 | 3:45,877,124 | C/G | — | uncertain significance |
| rs774230939 | 3:45,877,139 | G/A | — | uncertain significance |
| rs2529797868 | 3:45,877,144 | C/A | — | likely benign |
| rs515726135 | 3:45,877,145 | A/G | missense variant | pathogenic |
| rs1247421714 | 3:45,877,149 | G/A | — | pathogenic |
Showing 100 of 161 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.