Details for Gene RET

GENE NAME RET
CHROMOSOME 10
ENSEMBL ID ENSG00000165731
ENTREZ ID 5979
UNIPROT ACCESSION NUMBER P07949
GO MOLECULAR FUNCTION protein binding; transmembrane receptor protein tyrosine kinase activity
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa05230; R-HSA-5673001; R-HSA-162582; R-HSA-8853659; hsa04020; hsa05223; R-HSA-5684996; hsa05216; hsa05223; hsa05216; R-HSA-1266738; hsa04020; R-HSA-422475; R-HSA-5683057; R-HSA-9675108; hsa05230; hsa05200; hsa05200
6 combinations linked to RET OLI343; OLI021; OLI597; OLI347; OLI035; OLI184
6 variants linked to RET RET:c.2379delC, p.Cys794AlafsTer75; RET:p.Ile647=; RET:p.Asp489Gly; RET:c.3120G>C, p.Leu1040=; RET:c.1465G>A, p.Asp489Asn; RET:c.1907C>T, p.Thr636Met
3 diseases linked to RET Disorder of sex development; Hirschsprung disease; 46,XY disorder of sex development

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