Reactome | TGFBR2 K128Sfs*35 [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:3642147] Orlic-Milacic, M, 2013-05-30
crossReference	[DatabaseIdentifier:12020752] Mondo:0005575 [DatabaseIdentifier:3642154] COSMIC:COSV55442522
dbId	3642166
disease	[Disease:1500689] cancer [Disease:1248674] large intestine cancer
displayName	TGFBR2 K128Sfs*35 [cytosol]
endCoordinate	161
hasModifiedResidue	[FragmentReplacedModification:9831643] Replacement of residues 128 to 161 by SLVRLSSCVPVALMSAMTTSSSQKNITPAILTCC
inDisease	true
literatureReference	[LiteratureReference:3642171] Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability [LiteratureReference:3642192] Demonstration that mutation of the type II transforming growth factor beta receptor inactivates its tumor suppressor activity in replication error-positive colon carcinoma cells
maxDepth	1
memberOf	[DefinedSet:R-HSA-3642198] TGFBR2 MSI frameshift mutants [cytosol] - Homo sapiens
modified	[InstanceEdit:9831645] Orlic-Milacic, Marija, 2023-03-23
name	TGFBR2 K128Sfs35 TGFBR2 Lys128Serfs35
referenceEntity	[ReferenceGeneProduct:uniprot:P37173] UniProt:P37173 TGFBR2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-3642166
startCoordinate	23
updateTrackers	[UpdateTracker:9905271] Update Tracker - [EntityWithAccessionedSequence:3642166] TGFBR2 K128Sfs*35 [cytosol] - v85:[add_removeHasModifiedResidue, modifyName]

(updatedInstance)	[UpdateTracker:9905271] Update Tracker - [EntityWithAccessionedSequence:3642166] TGFBR2 K128Sfs*35 [cytosol] - v85:[add_removeHasModifiedResidue, modifyName]
(hasMember)	[DefinedSet:R-HSA-3642198] TGFBR2 MSI frameshift mutants [cytosol]

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