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Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
p16INK4A G101W [cytosol]
Show undefined attributes
Go to Details
compartment
[Compartment:70101] cytosol
created
[InstanceEdit:9631253] Orlic-Milacic, Marija, 2018-12-05
crossReference
[DatabaseIdentifier:9631254] COSMIC:COSV58692144
[DatabaseIdentifier:9631261] COSMIC:COSM36176
dbId
9631257
disease
[Disease:1500689] cancer
[Disease:2327989] bile duct carcinoma
[Disease:8853117] lung adenocarcinoma
[Disease:1500699] lung cancer
[Disease:1981182] lung squamous cell carcinoma
[Disease:1614289] melanoma
[Disease:9631256] myelodysplastic syndrome
displayName
p16INK4A G101W [cytosol]
endCoordinate
156
hasModifiedResidue
[ReplacedResidue:9631255] glycine 101 replaced with L-tryptophan
inDisease
true
literatureReference
[LiteratureReference:9631247] Functional reassessment of P16 variants using a transfection-based assay
[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
memberOf
[CandidateSet:R-HSA-9630804] p16INK4A LoF mutants (CDK4/6) [cytosol] - Homo sapiens
modified
[InstanceEdit:9645191] Orlic-Milacic, Marija, 2019-05-06
name
p16INK4A G101W
p16INK4A Gly101Trp
CDKN2A G101W
CDKN2A Gly101Trp
referenceEntity
[ReferenceGeneProduct:87039] UniProt:P42771 CDKN2A
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-9631257
startCoordinate
1
Referrals
(hasMember)
[CandidateSet:R-HSA-9630804] p16INK4A LoF mutants (CDK4/6) [cytosol]
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