NUMB
NUMB endocytic adaptor protein
Summary
The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs117957039 | 14:73,743,304 | C/T | — | likely benign |
| rs147475968 | 14:73,743,354 | G/A | — | uncertain significance |
| rs177381 | 14:73,743,367 | A/G | — | benign |
| rs369160731 | 14:73,743,404 | A/C | — | uncertain significance |
| rs17781919 | 14:73,743,458 | C/T | missense variant | — |
| rs1888198814 | 14:73,743,605 | T/C | — | uncertain significance |
| rs1440572903 | 14:73,743,630 | C/T | — | uncertain significance |
| rs145237255 | 14:73,743,715 | C/G | — | uncertain significance |
| rs1247245133 | 14:73,743,801 | G/A | — | uncertain significance |
| rs759196342 | 14:73,743,843 | G/A | — | uncertain significance |
| rs777614148 | 14:73,743,864 | C/G | — | uncertain significance |
| rs2503391122 | 14:73,743,903 | C/T | — | uncertain significance |
| rs373974311 | 14:73,743,990 | C/A | — | uncertain significance |
| rs747504257 | 14:73,743,996 | C/T | — | uncertain significance |
| rs148278687 | 14:73,746,099 | G/T | — | uncertain significance |
| rs61739599 | 14:73,749,074 | G/A | — | benign |
| rs779822190 | 14:73,750,849 | G/A | — | uncertain significance |
| rs1485074137 | 14:73,750,863 | C/T | — | uncertain significance |
| rs774508876 | 14:73,750,864 | G/A | — | uncertain significance |
| rs747237359 | 14:73,751,068 | T/C | — | uncertain significance |
| rs1005991070 | 14:73,753,848 | T/C | — | uncertain significance |
| rs1285084607 | 14:73,753,862 | G/A | — | uncertain significance |
| rs764893009 | 14:73,753,916 | C/T | — | uncertain significance |
| rs757198161 | 14:73,753,946 | C/T | — | uncertain significance |
| rs10483853 | 14:73,756,299 | A/G | intron variant | — |
| rs10146612 | 14:73,757,925 | A/G | intron variant | — |
| rs61743309 | 14:73,759,547 | A/G | — | benign |
| rs2333194 | 14:73,767,214 | G/T | — | — |
| rs746739948 | 14:73,783,111 | C/G | — | uncertain significance |
| rs12435797 | 14:73,797,669 | G/C | — | — |
| rs2108552 | 14:73,876,926 | G/A | — | — |
| rs1019075 | 14:73,884,047 | C/A | — | — |
| rs7153038 | 14:73,889,956 | C/A | intron variant | — |
| rs7154527 | 14:73,916,084 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.