Reactome | p16INK4A L97R [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9632514] Orlic-Milacic, Marija, 2018-12-19
crossReference	[DatabaseIdentifier:12021315] Mondo:0005184 [DatabaseIdentifier:9632517] COSMIC:COSV58684740
dbId	9632512
disease	[Disease:1500689] cancer [Disease:1614289] melanoma [Disease:2328001] skin squamous cell carcinoma [Disease:6802256] thyroid carcinoma [Disease:9630864] pancreatic ductal adenocarcinoma
displayName	p16INK4A L97R [cytosol]
endCoordinate	156
hasModifiedResidue	[ReplacedResidue:9632513] L-leucine 97 replaced with L-arginine
inDisease	true
literatureReference	[LiteratureReference:9631273] Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients [LiteratureReference:9632084] Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions
maxDepth	1
memberOf	[CandidateSet:R-HSA-9630826] p16INK4A LoF mutants (CDK4) [cytosol] - Homo sapiens
modified	[InstanceEdit:9645192] Orlic-Milacic, Marija, 2019-05-06
name	p16INK4A L97R p16INK4A Leu97Arg CDKN2A L97R CDKN2A Leu97Arg
referenceEntity	[ReferenceGeneProduct:uniprot:P42771] UniProt:P42771 CDKN2A
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9632512
startCoordinate	1

(hasMember)

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