Reactome | NF1 R304Q [cytosol]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-6802562] NF1 GTPase mutants [cytosol] - Homo sapiens
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9647520] Rothfels, Karen, 2019-05-31
crossReference	[DatabaseIdentifier:12020781] Mondo:0011962 [DatabaseIdentifier:9647457] COSMIC:COSV62209466
dbId	9647519
disease	[Disease:4791250] colorectal cancer [Disease:2317358] endometrial cancer
displayName	NF1 R304Q [cytosol]
endCoordinate	2839
hasModifiedResidue	[ReplacedResidue:9829019] L-arginine 304 replaced with L-glutamine
inDisease	true
literatureReference	[LiteratureReference:9647340] Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma [LiteratureReference:9646931] Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients
maxDepth	1
modified	[InstanceEdit:9829021] Orlic-Milacic, Marija, 2023-02-21
name	NF1 R304Q NF1
referenceEntity	[ReferenceGeneProduct:uniprot:P21359] UniProt:P21359 NF1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9647519
startCoordinate	2
updateTrackers	[UpdateTracker:9904662] Update Tracker - [EntityWithAccessionedSequence:9647519] NF1 R304Q [cytosol] - v84:[addHasModifiedResidue, modifyEndCoordinate]

(updatedInstance)	[UpdateTracker:9904662] Update Tracker - [EntityWithAccessionedSequence:9647519] NF1 R304Q [cytosol] - v84:[addHasModifiedResidue, modifyEndCoordinate]
(hasCandidate)	[CandidateSet:R-HSA-6802562] NF1 GTPase mutants [cytosol]

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