Reactome | AMER1 R353* [cytosol]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-4839741] truncated AMER1 mutants [cytosol] - Homo sapiens
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9663940] Rothfels, Karen, 2019-10-18
crossReference	[DatabaseIdentifier:12020835] Mondo:0002271 [DatabaseIdentifier:9663937] COSMIC:COSV57654256
dbId	9663939
disease	[Disease:1500689] cancer [Disease:9662153] colon adenocarcinoma [Disease:4791250] colorectal cancer
displayName	AMER1 R353* [cytosol]
endCoordinate	352
hasModifiedResidue	[NonsenseMutation:9663932] Nonsense mutation at L-arginine 353
inDisease	true
literatureReference	[LiteratureReference:5251462] WTX inactivation is a frequent, but late event in Wilms tumors without apparent clinical impact
maxDepth	1
modified	[InstanceEdit:9967563] D'Eustachio, Peter, 2025-10-02
name	AMER1 R353* FAM123B WTX
referenceEntity	[ReferenceGeneProduct:uniprot:Q5JTC6] UniProt:Q5JTC6 AMER1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9663939
startCoordinate	1
updateTrackers	[UpdateTracker:9972225] Update Tracker - [EntityWithAccessionedSequence:9663939] AMER1 R353* [cytosol] - v95:[modifyEndCoordinate]

(updatedInstance)	[UpdateTracker:9972225] Update Tracker - [EntityWithAccessionedSequence:9663939] AMER1 R353* [cytosol] - v95:[modifyEndCoordinate]
(hasCandidate)	[CandidateSet:R-HSA-4839741] truncated AMER1 mutants [cytosol]

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