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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
FGFR1 N546K [plasma membrane]
Show undefined attributes
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compartment
[Compartment:876] plasma membrane
componentOf
[Complex:R-HSA-2023414] FGFR1 N546K mutant dimer [plasma membrane] - Homo sapiens
[Complex:R-HSA-2023414] FGFR1 N546K mutant dimer [plasma membrane] - Homo sapiens
created
[InstanceEdit:1614378] Rothfels, K, 2011年09月28日
crossReference
[DatabaseIdentifier:11945424] Mondo:0007793
[DatabaseIdentifier:11944936] Mondo:0018177
[DatabaseIdentifier:11944892] Mondo:0004992
[DatabaseIdentifier:2023321] COSMIC:COSV58329537
dbId
1614377
disease
[Disease:1625207] hypochondroplasia
[Disease:1500689] cancer
[Disease:1247632] glioblastoma
displayName
FGFR1 N546K [plasma membrane]
endCoordinate
822
hasModifiedResidue
[ReplacedResidue:1614376] L-asparagine 546 replaced with L-lysine
inDisease
true
literatureReference
[LiteratureReference:1614269] Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas
[LiteratureReference:1614276] The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations
maxDepth
1
memberOf
[CandidateSet:R-HSA-2012030] FGFR1 mutants with enhanced kinase activity [plasma membrane] - Homo sapiens
modified
[InstanceEdit:9962055] Matthews, Lisa, 2025年07月30日
name
FGFR1 N546K
referenceEntity
[ReferenceGeneProduct:uniprot:P11362] UniProt:P11362 FGFR1
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-1614377
startCoordinate
22
summation
[Summation:1614379] weak constitutive activation of ligand independent binding b...
updateTrackers
[UpdateTracker:9965750] Update Tracker - [EntityWithAccessionedSequence:1614377] FGFR1 N546K [plasma membrane] - v94:[add_removeDisease]
[UpdateTracker:9890989] Update Tracker - [EntityWithAccessionedSequence:1614377] FGFR1 N546K [plasma membrane] - v52:[modifyName]
[UpdateTracker:9964932] Update Tracker - [EntityWithAccessionedSequence:1614377] FGFR1 N546K [plasma membrane] - v94:[add_removeDisease]
Referrals
(updatedInstance)
[UpdateTracker:9965750] Update Tracker - [EntityWithAccessionedSequence:1614377] FGFR1 N546K [plasma membrane] - v94:[add_removeDisease]
[UpdateTracker:9890989] Update Tracker - [EntityWithAccessionedSequence:1614377] FGFR1 N546K [plasma membrane] - v52:[modifyName]
[UpdateTracker:9964932] Update Tracker - [EntityWithAccessionedSequence:1614377] FGFR1 N546K [plasma membrane] - v94:[add_removeDisease]
(hasMember)
[CandidateSet:R-HSA-2012030] FGFR1 mutants with enhanced kinase activity [plasma membrane]
(hasComponent)
[Complex:R-HSA-2023414] FGFR1 N546K mutant dimer [plasma membrane]
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