HYAL1 E268K/V251_V262delinsFRVA Q263fs*20 [lysosomal lumen]

catalystActivities
compartment
created [InstanceEdit:2318726] Jassal, B, 2012-06-15
dbId 2318714
disease
displayName HYAL1 E268K/V251_V262delinsFRVA Q263fs*20 [lysosomal lumen]
endCoordinate 277
hasModifiedResidue
inDisease true
modified [InstanceEdit:8943463] Jassal, Bijay, 2016-10-25
name
  • HYAL1 E268K/V251_V262delinsFRVA Q263fs*20
  • HYAL1
  • Hyaluronidase-1
  • HYAL1_HUMAN
  • c.1361del37ins14/p.E268K HYAL1
referenceEntity [ReferenceGeneProduct:232302] UniProt:Q12794 HYAL1
referenceType ReferenceGeneProduct
schemaClass EntityWithAccessionedSequence
species [Species:48887] Homo sapiens
stId R-HSA-2318714
startCoordinate 22
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