Reactome | gain_of_function of SHH processing variants:ERLEC:OS9:SEL1:SYVN1 dimer:DERL2:VCP hexamer [endoplasmic reticulum membrane]

Schema > EntityFunctionalStatus > Entries

created	[InstanceEdit:9630073] Rothfels, Karen, 2018-11-28
dbId	9630074
diseaseEntity	[Complex:R-HSA-5387378] SHH processing variants:ERLEC:OS9:SEL1:SYVN1 dimer:DERL2:VCP hexamer [endoplasmic reticulum membrane]
displayName	gain_of_function of SHH processing variants:ERLEC:OS9:SEL1:SYVN1 dimer:DERL2:VCP hexamer [endoplasmic reticulum membrane]
functionalStatus	[FunctionalStatus:2362351] gain_of_function via non_conservative_missense_variant
modified	[InstanceEdit:9631717] Wu, G, 2018-12-12
schemaClass	EntityFunctionalStatus

(entityFunctionalStatus)

Cite Us!