LTBR
lymphotoxin beta receptor
Summary
This gene encodes a member of the tumor necrosis factor receptor superfamily. The major ligands of this receptor include lymphotoxin alpha/beta and tumor necrosis factor ligand superfamily member 14. The encoded protein plays a role in signalling during the development of lymphoid and other organs, lipid metabolism, immune response, and programmed cell death. Activity of this receptor has also been linked to carcinogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs61759861 | 12:6,483,610 | C/T | missense variant | uncertain significance |
| rs61759860 | 12:6,483,709 | G/A | missense variant | pathogenic |
| rs11064153 | 12:6,488,450 | T/C | upstream gene variant | — |
| rs3759333 | 12:6,491,947 | C/T | upstream gene variant | — |
| rs3759334 | 12:6,492,008 | G/A | upstream gene variant | — |
| rs1047232956 | 12:6,493,559 | T/A | — | uncertain significance |
| rs1331026150 | 12:6,493,576 | G/A | — | uncertain significance |
| rs41441750 | 12:6,493,745 | C/T | — | benign |
| rs11555387 | 12:6,493,813 | G/A | — | benign |
| rs147291553 | 12:6,493,817 | C/G | — | uncertain significance |
| rs748787501 | 12:6,493,838 | C/T | — | uncertain significance |
| rs748505384 | 12:6,494,215 | G/A | — | uncertain significance |
| rs41480749 | 12:6,494,240 | G/A | — | benign |
| rs371101623 | 12:6,494,446 | C/G | — | uncertain significance |
| rs41489647 | 12:6,494,457 | G/A | — | benign |
| rs41393248 | 12:6,494,510 | C/T | — | benign |
| rs147597418 | 12:6,495,124 | C/T | intron variant | — |
| rs2364480 | 12:6,495,275 | C/A | synonymous variant | — |
| rs41335846 | 12:6,495,299 | C/T | — | benign |
| rs1325003601 | 12:6,495,325 | C/G | — | uncertain significance |
| rs778597764 | 12:6,495,568 | A/G | — | uncertain significance |
| rs41332645 | 12:6,497,581 | G/T | — | benign |
| rs770612498 | 12:6,497,983 | C/T | — | uncertain significance |
| rs764079228 | 12:6,497,984 | G/A | — | likely benign |
| rs35681405 | 12:6,499,296 | G/A | — | benign |
| rs1029284604 | 12:6,499,329 | C/A | — | uncertain significance |
| rs1949095495 | 12:6,499,330 | C/A | — | uncertain significance |
| rs147770937 | 12:6,499,385 | A/G | — | benign |
| rs140869621 | 12:6,499,389 | T/C | — | uncertain significance |
| rs1374686017 | 12:6,499,398 | C/G | — | uncertain significance |
| rs750864837 | 12:6,499,413 | G/A | — | uncertain significance |
| rs749203106 | 12:6,499,447 | C/T | — | uncertain significance |
| rs1416256679 | 12:6,499,912 | C/T | — | uncertain significance |
| rs759658244 | 12:6,499,913 | C/T | — | uncertain significance |
| rs142824360 | 12:6,499,976 | C/T | — | uncertain significance |
| rs552582823 | 12:6,500,089 | A/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.