NUMBL
NUMB like endocytic adaptor protein
Summary
Involved in cytokine-mediated signaling pathway. Predicted to be active in cytoplasm and glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1161919825 | 19:41,173,426 | G/A | — | uncertain significance |
| rs1319820105 | 19:41,173,522 | G/T | — | uncertain significance |
| rs772672013 | 19:41,173,582 | G/T | — | uncertain significance |
| rs74674304 | 19:41,173,584 | A/G | — | uncertain significance |
| rs747726463 | 19:41,173,590 | C/T | — | uncertain significance |
| rs974650272 | 19:41,173,591 | C/T | — | uncertain significance |
| rs757456532 | 19:41,173,684 | C/T | — | uncertain significance |
| rs529911679 | 19:41,173,719 | G/A | — | uncertain significance |
| rs375867164 | 19:41,173,726 | C/T | — | likely benign |
| rs760640383 | 19:41,173,740 | G/A | — | uncertain significance |
| rs2515432892 | 19:41,173,818 | G/T | — | uncertain significance |
| rs536916726 | 19:41,174,010 | G/T | — | uncertain significance |
| rs368177644 | 19:41,174,017 | C/T | — | uncertain significance |
| rs774567793 | 19:41,174,029 | C/A | — | uncertain significance |
| rs61733989 | 19:41,175,904 | C/T | — | uncertain significance |
| rs1293521460 | 19:41,179,276 | G/A | — | uncertain significance |
| rs1311477407 | 19:41,179,411 | G/A | — | uncertain significance |
| rs138996730 | 19:41,179,456 | C/A | — | uncertain significance |
| rs542662512 | 19:41,179,501 | C/T | — | uncertain significance |
| rs555769270 | 19:41,180,841 | C/G | — | — |
| rs528859807 | 19:41,183,274 | C/T | — | uncertain significance |
| rs377270022 | 19:41,186,860 | G/A | — | uncertain significance |
| rs527749829 | 19:41,186,943 | G/A | — | uncertain significance |
| rs141799618 | 19:41,188,078 | C/G | intron variant | — |
| rs2515453081 | 19:41,188,674 | C/A | — | uncertain significance |
| rs146512935 | 19:41,188,847 | C/G | — | uncertain significance |
| rs1380478870 | 19:41,190,408 | C/T | — | uncertain significance |
| rs10402624 | 19:41,192,310 | T/C | — | — |
| rs746385018 | 19:41,192,848 | G/A | — | likely benign |
| rs1223388188 | 19:41,192,866 | G/A | — | uncertain significance |
| rs576949876 | 19:41,192,879 | G/A | — | uncertain significance |
| rs1421054669 | 19:41,192,884 | G/A | — | uncertain significance |
| rs398122980 | 19:41,198,128 | C/A | stop gained | pathogenic |
| rs1057519347 | 19:41,198,145 | C/T | missense variant | pathogenic |
| rs398122983 | 19:41,198,213 | — | — | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.