SHARPIN
SHANK associated RH domain interactor
Summary
Enables polyubiquitin modification-dependent protein binding activity. Involved in defense response to bacterium; protein linear polyubiquitination; and regulation of signal transduction. Located in cytosol. Part of LUBAC complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs368001164 | 8:145,153,848 | G/C | — | uncertain significance |
| rs112552278 | 8:145,153,851 | C/T | — | likely benign |
| rs925928246 | 8:145,153,884 | C/T | — | uncertain significance |
| rs752887435 | 8:145,153,989 | G/A | — | uncertain significance |
| rs200344062 | 8:145,154,070 | C/T | — | uncertain significance |
| rs751554369 | 8:145,154,086 | G/C | — | uncertain significance |
| rs562533242 | 8:145,154,186 | C/A | — | uncertain significance |
| rs34674752 | 8:145,154,222 | G/A | — | benign |
| rs1044092603 | 8:145,154,260 | C/T | — | uncertain significance |
| rs77359862 | 8:145,154,282 | G/A | missense variant | — |
| rs200777435 | 8:145,154,296 | C/T | — | uncertain significance |
| rs1357431865 | 8:145,154,438 | C/T | — | uncertain significance |
| rs369335155 | 8:145,154,447 | T/C | — | uncertain significance |
| rs761738333 | 8:145,154,488 | G/A | — | likely benign |
| rs1836248006 | 8:145,154,622 | G/A | — | uncertain significance |
| rs2537336517 | 8:145,154,627 | C/G | — | uncertain significance |
| rs375442263 | 8:145,154,658 | C/T | — | uncertain significance |
| rs2537336748 | 8:145,154,688 | G/C | — | uncertain significance |
| rs200702253 | 8:145,154,697 | C/G | — | uncertain significance |
| rs368029645 | 8:145,154,715 | C/T | — | uncertain significance |
| rs767943795 | 8:145,154,723 | C/T | — | likely benign |
| rs371756677 | 8:145,154,724 | G/A | — | uncertain significance |
| rs199932176 | 8:145,154,823 | C/A | — | benign |
| rs1218430063 | 8:145,154,836 | C/G | — | uncertain significance |
| rs1024247966 | 8:145,154,857 | C/G | — | uncertain significance |
| rs2537337209 | 8:145,154,865 | G/A | — | uncertain significance |
| rs201622976 | 8:145,154,925 | C/T | — | uncertain significance |
| rs775548323 | 8:145,154,927 | G/A | — | uncertain significance |
| rs201294290 | 8:145,154,967 | T/C | — | uncertain significance |
| rs12550729 | 8:145,155,408 | C/G | — | — |
| rs373735012 | 8:145,157,977 | C/A | — | uncertain significance |
| rs896511512 | 8:145,158,040 | C/G | — | uncertain significance |
| rs773225447 | 8:145,158,053 | G/A | — | uncertain significance |
| rs12549149 | 8:145,158,446 | C/T | — | benign |
| rs1231167903 | 8:145,158,473 | C/G | — | uncertain significance |
| rs11136254 | 8:145,158,503 | G/T | — | benign |
| rs200972856 | 8:145,158,514 | G/C | — | likely benign |
| rs996582144 | 8:145,158,563 | C/G | — | uncertain significance |
| rs34173062 | 8:145,158,607 | G/A | — | benign |
| rs948142494 | 8:145,158,635 | C/T | — | uncertain significance |
| rs11136256 | 8:145,160,646 | T/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.