TNIP1
TNFAIP3 interacting protein 1
Summary
This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs736775 | 5:150,409,348 | T/C | downstream gene variant | — |
| rs563367882 | 5:150,410,282 | G/T | — | uncertain significance |
| rs762664203 | 5:150,411,914 | C/A | — | uncertain significance |
| rs372807299 | 5:150,413,191 | G/C | — | uncertain significance |
| rs62382331 | 5:150,413,202 | C/T | — | benign |
| rs139724991 | 5:150,413,237 | G/A | — | uncertain significance |
| rs2233306 | 5:150,413,290 | G/A | — | likely benign |
| rs763948793 | 5:150,413,341 | T/C | — | uncertain significance |
| rs753833491 | 5:150,413,347 | C/T | — | uncertain significance |
| rs759431804 | 5:150,415,219 | C/T | — | uncertain significance |
| rs151299745 | 5:150,415,231 | C/T | — | uncertain significance |
| rs1757765947 | 5:150,416,385 | T/C | — | uncertain significance |
| rs145527698 | 5:150,416,451 | G/A | — | uncertain significance |
| rs1758077297 | 5:150,418,668 | C/T | — | uncertain significance |
| rs1321021320 | 5:150,418,702 | G/C | — | uncertain significance |
| rs1405459387 | 5:150,418,751 | C/A | — | uncertain significance |
| rs750166669 | 5:150,422,157 | G/C | — | uncertain significance |
| rs138164905 | 5:150,422,168 | C/T | — | uncertain significance |
| rs143208951 | 5:150,422,228 | G/A | — | uncertain significance |
| rs1439403408 | 5:150,422,485 | C/T | — | uncertain significance |
| rs778522420 | 5:150,425,474 | G/A | — | uncertain significance |
| rs775220213 | 5:150,425,481 | C/T | — | uncertain significance |
| rs2531727534 | 5:150,429,407 | T/G | — | uncertain significance |
| rs371782529 | 5:150,429,434 | G/A | — | uncertain significance |
| rs2233295 | 5:150,429,452 | G/A | — | benign |
| rs149849584 | 5:150,431,799 | T/C | — | likely benign |
| rs771935754 | 5:150,436,397 | C/T | — | uncertain significance |
| rs760513015 | 5:150,436,404 | G/C | — | uncertain significance |
| rs373457533 | 5:150,436,409 | G/T | — | uncertain significance |
| rs749896821 | 5:150,436,430 | G/A | — | uncertain significance |
| rs529899060 | 5:150,436,491 | C/T | — | likely benign |
| rs765859380 | 5:150,436,500 | G/A | — | uncertain significance |
| rs2233290 | 5:150,436,503 | G/C | — | benign |
| rs374148841 | 5:150,436,516 | C/T | — | likely benign |
| rs2233289 | 5:150,436,517 | A/G | — | conflicting classifications of pathogenicity |
| rs201593507 | 5:150,439,431 | C/G | — | — |
| rs2233287 | 5:150,440,097 | G/A | regulatory region variant | — |
| rs751627129 | 5:150,441,769 | C/A | — | uncertain significance |
| rs141997689 | 5:150,443,181 | C/T | — | likely benign |
| rs749669725 | 5:150,443,239 | T/C | — | uncertain significance |
| rs375664954 | 5:150,444,556 | C/T | — | uncertain significance |
| rs6861227 | 5:150,447,128 | T/G | intron variant | — |
| rs4958881 | 5:150,450,236 | T/C | regulatory region variant | — |
| rs13160369 | 5:150,452,196 | C/G | regulatory region variant | — |
| rs1107239 | 5:150,454,606 | T/A | regulatory region variant | — |
| rs3792783 | 5:150,455,732 | A/G | regulatory region variant | — |
| rs7708392 | 5:150,457,485 | G/C | intron variant | — |
| rs10036748 | 5:150,458,146 | C/A | — | — |
| rs960709 | 5:150,461,049 | A/T | — | — |
| rs76956521 | 5:150,464,641 | A/G | — | — |
| rs2233278 | 5:150,467,189 | G/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.