Reactome | p-S621-RAF1 N262K [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9656100] Rothfels, Karen, 2019-07-27
crossReference	[DatabaseIdentifier:12020783] Mondo:0009026 [DatabaseIdentifier:9656004] COSMIC:COSV52585428 [DatabaseIdentifier:9656001] COSMIC:COSV52580630 [DatabaseIdentifier:9656002] ClinGen:CA261628 [DatabaseIdentifier:9655999] ClinGen:CA351512337
dbId	9656101
disease	[Disease:9651116] Costello syndrome [Disease:1500699] lung cancer [Disease:1655499] prostate cancer
displayName	p-S621-RAF1 N262K [cytosol]
endCoordinate	648
hasModifiedResidue	[ModifiedResidue:109785] O-phospho-L-serine at 621 [ReplacedResidue:9655896] L-asparagine 262 replaced with L-leucine
inDisease	true
literatureReference	[LiteratureReference:9655515] Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
maxDepth	1
memberOf	[CandidateSet:R-HSA-9656159] p-S621 RAF1 CR2 mutants [cytosol] - Homo sapiens
name	p-S621-RAF1 N262K RAF proto-oncogene serine/threonine-protein kinase Raf-1 C-RAF cRaf
referenceEntity	[ReferenceGeneProduct:uniprot:P04049] UniProt:P04049 RAF1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9656101
startCoordinate	1

(hasMember)

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