HYAL1 V251Ffs*20 [lysosomal lumen]

compartment
created [InstanceEdit:2318726] Jassal, B, 2012-06-15
crossReference
dbId 2318714
disease
displayName HYAL1 V251Ffs*20 [lysosomal lumen]
endCoordinate 269
hasModifiedResidue
inDisease true
literatureReference
maxDepth 1
memberOf
modified [InstanceEdit:9832513] Orlic-Milacic, Marija, 2023-04-01
name
  • HYAL1 V251Ffs*20
  • HYAL1
  • Hyaluronidase-1
  • HYAL1_HUMAN
  • c.1361del37ins14/p.E268K HYAL1
referenceEntity [ReferenceGeneProduct:uniprot:Q12794] UniProt:Q12794 HYAL1
referenceType ReferenceGeneProduct
schemaClass EntityWithAccessionedSequence
species [Species:48887] Homo sapiens
stId R-HSA-2318714
startCoordinate 22
updateTrackers
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