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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
TP53 L344P [nucleoplasm]
Show undefined attributes
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compartment
[Compartment:7660] nucleoplasm
created
[InstanceEdit:9726067] Orlic-Milacic, Marija, 2021-04-05
crossReference
[DatabaseIdentifier:9726072] COSMIC:COSV52687285
dbId
9726075
disease
[Disease:1500689] cancer
[Disease:9606370] chondrosarcoma
[Disease:1500576] breast cancer
[Disease:9726065] aggressive NK-cell leukemia
[Disease:1655483] renal clear cell carcinoma
[Disease:9630864] pancreatic ductal adenocarcinoma
[Disease:1655494] prostate adenocarcinoma
[Disease:1248679] head and neck squamous cell carcinoma
[Disease:9630850] pharynx squamous cell carcinoma
[Disease:9726249] Li-Fraumeni syndrome
displayName
TP53 L344P [nucleoplasm]
endCoordinate
393
hasModifiedResidue
[ReplacedResidue:9726069] L-leucine 344 replaced with L-proline
inDisease
true
literatureReference
[LiteratureReference:9726064] Folding of tetrameric p53: oligomerization and tumorigenic mutations induce misfolding and loss of function
[LiteratureReference:9726103] p53 mutants without a functional tetramerisation domain are not oncogenic
[LiteratureReference:9726245] Characterization of the oligomerization defects of two p53 mutants found in families with Li-Fraumeni and Li-Fraumeni-like syndrome
[LiteratureReference:9726252] Oligomerization is not essential for growth suppression by p53 in p53-deficient osteosarcoma Saos-2 cells
[LiteratureReference:9726286] Characterization of p53 oligomerization domain mutations isolated from Li-Fraumeni and Li-Fraumeni like family members
[LiteratureReference:9726293] Characterization of p53 mutants identified in human tumors with a missense mutation in the tetramerization domain
[LiteratureReference:9726313] Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation
memberOf
[CandidateSet:R-HSA-9720037] TP53 mutants (tetramerization) [nucleoplasm] - Homo sapiens
modified
[InstanceEdit:9726317] Orlic-Milacic, Marija, 2021-04-06
name
TP53 L344P
referenceEntity
[ReferenceGeneProduct:69487] UniProt:P04637 TP53
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-9726075
startCoordinate
1
Referrals
(hasMember)
[CandidateSet:R-HSA-9720037] TP53 mutants (tetramerization) [nucleoplasm]
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