| Gene Symbol | ent-gene-694200ea |
| Chromosome | 1q21 |
| Missense mutations | N370S, L444P, V394L, D409H |
| Splice-site mutations | IVS2+1, IVS10-1 |
| Recombinant alleles | Complex mutations from gene conversion with GBAP1 |
| Null mutations | Frameshift, nonsense mutations causing complete loss of function |
| KG Connections | 4 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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