Reactome | PALB2 T1030I [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704423] Orlic-Milacic, Marija, 2020-10-09
crossReference	[DatabaseIdentifier:9704422] ClinGen:CA10579934
dbId	9704424
disease	[Disease:1500689] cancer [Disease:1500576] breast cancer
displayName	PALB2 T1030I [nucleoplasm]
endCoordinate	1186
hasModifiedResidue	[ReplacedResidue:9704421] L-threonine 1030 replaced with L-isoleucine
inDisease	true
literatureReference	[LiteratureReference:5685831] Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair [LiteratureReference:9724146] A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor [LiteratureReference:9724158] Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2 [LiteratureReference:9724157] Functional characterization of 84 PALB2 variants of uncertain significance
memberOf	[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9724326] Orlic-Milacic, Marija, 2021-03-23
name	PALB2 T1030I PALB2 Thr1030Ile
referenceEntity	[ReferenceGeneProduct:241569] UniProt:Q86YC2 PALB2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9704424
startCoordinate	1

(hasMember)