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Details on Person p-BRAF F595L [plasma membrane]

Class:Id	EntityWithAccessionedSequence:8936641
_displayName	p-BRAF F595L [plasma membrane]
_timestamp	2019-06-25 14:52:44
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:8936642] Rothfels, Karen, 2016-08-22
crossReference	[DatabaseIdentifier:6802315] COSMIC:COSV56127790 [DatabaseIdentifier:6802318] COSMIC:COSV56088678 [DatabaseIdentifier:9651197] ClinGen:CA280071 [DatabaseIdentifier:9651198] ClinGen:CA280058 [DatabaseIdentifier:9651200] ClinGen:CA295915
disease	[Disease:4791250] colorectal cancer [Disease:1493885] bladder carcinoma [Disease:9651118] LEOPARD syndrome [Disease:6802289] Noonan syndrome [Disease:9651119] cardiofaciocutaneous syndrome
endCoordinate	766
hasModifiedResidue	[ReplacedResidue:6802317] L-phenylalanine 595 replaced with L-leucine [ModifiedResidue:5672668] O-phospho-L-serine at 446 [ModifiedResidue:5672670] O-phospho-L-serine at 729 [ModifiedResidue:5672675] O-phospho-L-threonine at 599 [ModifiedResidue:5672677] O-phospho-L-serine at 602
literatureReference	[LiteratureReference:5672236] Mutations of the BRAF gene in human cancer [LiteratureReference:5672469] Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF [LiteratureReference:9651008] Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum [LiteratureReference:9651044] Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
modified	[InstanceEdit:9651203] Rothfels, Karen, 2019-06-25
name	p-BRAF F595L B-RAF
referenceEntity	[ReferenceGeneProduct:58251] UniProt:P15056 BRAF [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:8936643] R-HSA-8936641.2
startCoordinate	2
(hasMember)	[CandidateSet:8936658] phosphorylated moderate kinase activity BRAF mutants [plasma membrane] [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9900626] Update Tracker - [EntityWithAccessionedSequence:8936641] p-BRAF F595L [plasma membrane] - v70:[addDisease, addLiteratureReference, modifyName]
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No pathways have been reviewed or authored by p-BRAF F595L [plasma membrane] (8936641)