Reactome | NF1 R1276Q [cytosol]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-6802562] NF1 GTPase mutants [cytosol] - Homo sapiens
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9647544] Rothfels, Karen, 2019-05-31
crossReference	[DatabaseIdentifier:12020752] Mondo:0005575 [DatabaseIdentifier:9647467] COSMIC:COSV62196628
dbId	9647545
disease	[Disease:4791250] colorectal cancer
displayName	NF1 R1276Q [cytosol]
endCoordinate	1275
hasModifiedResidue	[ReplacedResidue:9647414] L-arginine 1276 replaced with L-glutamine
inDisease	true
literatureReference	[LiteratureReference:9647116] Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer
maxDepth	1
name	NF1 R1276Q
referenceEntity	[ReferenceGeneProduct:uniprot:P21359] UniProt:P21359 NF1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9647545
startCoordinate	2

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