Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

p16INK4A G23D [cytosol] Show undefined attributes

compartment

[Compartment:70101] cytosol

created [InstanceEdit:9630883] Orlic-Milacic, Marija, 2018年12月03日

crossReference

dbId 9630892

disease

displayName p16INK4A G23D [cytosol]

endCoordinate 156

hasModifiedResidue

[ReplacedResidue:9630889] glycine 23 replaced with L-aspartic acid

inDisease true

literatureReference

[LiteratureReference:9630896] Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation
[LiteratureReference:9631144] CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment
[LiteratureReference:9631273] Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients
[LiteratureReference:9631243] Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A

maxDepth 1

memberOf

[CandidateSet:R-HSA-9630826] p16INK4A LoF mutants (CDK4) [cytosol] - Homo sapiens

modified [InstanceEdit:9645191] Orlic-Milacic, Marija, 2019年05月06日

name

p16INK4A G23D
p16INK4A Gly23Asp
CDKN2A G23D
CDKN2A Gly23Asp

referenceEntity [ReferenceGeneProduct:uniprot:P42771] UniProt:P42771 CDKN2A

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-9630892

startCoordinate 1

summation

[Summation:9630898] p16INK4A G23D mutant is produced by a missense mutation in t...

Referrals

(hasMember)

[CandidateSet:R-HSA-9630826] p16INK4A LoF mutants (CDK4) [cytosol]

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