RUFY4
RUN and FYVE domain containing 4
Summary
Enables phosphatidylinositol-3-phosphate binding activity. Involved in autophagosome assembly; cellular response to interleukin-4; and positive regulation of macroautophagy. Located in autophagosome. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144670711 | 2:218,902,327 | T/C | intron variant | — |
| rs111810509 | 2:218,935,332 | G/A | — | uncertain significance |
| rs113075492 | 2:218,935,478 | G/A | — | likely benign |
| rs1488696537 | 2:218,935,494 | T/C | — | uncertain significance |
| rs374271135 | 2:218,937,131 | C/A | — | uncertain significance |
| rs185526282 | 2:218,937,134 | G/C | — | uncertain significance |
| rs1013080774 | 2:218,937,187 | A/G | — | uncertain significance |
| rs1178235191 | 2:218,937,539 | G/A | — | uncertain significance |
| rs551828867 | 2:218,937,554 | G/T | — | uncertain significance |
| rs1343758713 | 2:218,937,569 | A/T | — | uncertain significance |
| rs781607906 | 2:218,937,601 | C/G | — | uncertain significance |
| rs758983979 | 2:218,937,977 | G/C | — | uncertain significance |
| rs199659199 | 2:218,938,007 | G/A | — | uncertain significance |
| rs771870870 | 2:218,938,057 | G/A | — | uncertain significance |
| rs1295047237 | 2:218,938,059 | G/T | — | likely benign |
| rs747485182 | 2:218,938,080 | C/G | — | uncertain significance |
| rs761149922 | 2:218,938,561 | C/G | — | uncertain significance |
| rs918930109 | 2:218,939,817 | T/G | — | uncertain significance |
| rs1279639472 | 2:218,939,834 | G/A | — | likely benign |
| rs1248630781 | 2:218,939,852 | A/G | — | uncertain significance |
| rs937880041 | 2:218,939,891 | G/A | — | uncertain significance |
| rs373676741 | 2:218,939,979 | G/T | — | uncertain significance |
| rs55688870 | 2:218,940,004 | G/C | — | conflicting classifications of pathogenicity |
| rs781683102 | 2:218,940,041 | G/A | — | uncertain significance |
| rs780384790 | 2:218,940,056 | G/A | — | likely benign |
| rs1173969448 | 2:218,940,117 | G/C | — | uncertain significance |
| rs752509147 | 2:218,940,119 | G/T | — | uncertain significance |
| rs1188590859 | 2:218,940,212 | C/T | — | uncertain significance |
| rs368023185 | 2:218,940,222 | A/G | — | uncertain significance |
| rs758621621 | 2:218,940,444 | C/A | — | uncertain significance |
| rs986507819 | 2:218,941,163 | G/A | — | uncertain significance |
| rs963842263 | 2:218,941,169 | G/A | — | likely benign |
| rs2469041007 | 2:218,941,177 | G/A | — | likely benign |
| rs372227560 | 2:218,941,211 | G/C | — | uncertain significance |
| rs201188631 | 2:218,941,225 | G/C | — | uncertain significance |
| rs6737563 | 2:218,945,674 | T/G | — | — |
| rs772767455 | 2:218,947,855 | C/G | — | uncertain significance |
| rs569905854 | 2:218,947,870 | G/A | — | uncertain significance |
| rs1489645350 | 2:218,947,925 | G/C | — | uncertain significance |
| rs777045555 | 2:218,947,961 | G/A | — | uncertain significance |
| rs6726126 | 2:218,952,233 | G/T | — | — |
| rs762490010 | 2:218,954,070 | G/A | — | uncertain significance |
| rs987626471 | 2:218,954,738 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.