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Details on Person p16INK4A M53I [cytosol]

Class:Id	EntityWithAccessionedSequence:9630911
_displayName	p16INK4A M53I [cytosol]
_timestamp	2019-05-06 20:20:49
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9630909] Orlic-Milacic, Marija, 2018-12-03
crossReference	[DatabaseIdentifier:9630908] COSMIC:COSV58683319
disease	[Disease:1500689] cancer [Disease:1614289] melanoma [Disease:2327989] bile duct carcinoma [Disease:1493885] bladder carcinoma [Disease:6802256] thyroid carcinoma [Disease:1500576] breast cancer
endCoordinate	156
hasModifiedResidue	[ReplacedResidue:9630910] L-methionine 53 replaced with L-isoleucine
literatureReference	[LiteratureReference:9630869] Germline mutations of the CDKN2 gene in UK melanoma families [LiteratureReference:9631247] Functional reassessment of P16 variants using a transfection-based assay [LiteratureReference:9631243] Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A
modified	[InstanceEdit:9631252] Orlic-Milacic, Marija, 2018-12-05 [InstanceEdit:9645192] Orlic-Milacic, Marija, 2019-05-06
name	p16INK4A M53I p16INK4A Met53Ile CDKN2A M53I CDKN2A Met53Ile
referenceEntity	[ReferenceGeneProduct:87039] UniProt:P42771 CDKN2A [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9630912] R-HSA-9630911.1
startCoordinate	1
(hasMember)	[CandidateSet:9630804] p16INK4A LoF mutants (CDK4/6) [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by p16INK4A M53I [cytosol] (9630911)