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Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

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Details on Person PALB2 T1030I [nucleoplasm]

Class:IdEntityWithAccessionedSequence:9704424
_displayNamePALB2 T1030I [nucleoplasm]
_timestamp2021-03-23 22:10:05
compartment[Compartment:7660] nucleoplasm
created[InstanceEdit:9704423] Orlic-Milacic, Marija, 2020-10-09
crossReference[DatabaseIdentifier:9704422] ClinGen:CA10579934
disease[Disease:1500689] cancer
[Disease:1500576] breast cancer
endCoordinate1186
hasModifiedResidue[ReplacedResidue:9704421] L-threonine 1030 replaced with L-isoleucine
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
modified[InstanceEdit:9724326] Orlic-Milacic, Marija, 2021-03-23
namePALB2 T1030I
PALB2 Thr1030Ile
referenceEntity[ReferenceGeneProduct:241569] UniProt:Q86YC2 PALB2 [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9704425] R-HSA-9704424.1
startCoordinate1
(hasMember)[CandidateSet:9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] [Homo sapiens]
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No pathways have been reviewed or authored by PALB2 T1030I [nucleoplasm] (9704424)
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