Publication

Heterozygous Mutations in SMARCA2 Reprogram the Enhancer Landscape by Global Retargeting of SMARCA4.

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Mol Cell2019PMID 31375262PMC7291823stubpubmedPublished

Abstract

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Linked entities

Linked entities (3)

How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.

Validated 3

geneSMARCA2civic_curation1.00
variantSMARCA2 K755Rcivic_curation1.00
variantSMARCA2 R1159Qcivic_curation1.00

Curated evidence

Evidence citing this paper (2)

civicCuratedShowing 1–2 of 2 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
SMARCA2 K755R1
(functional)	—UNRESOLVED	Functional	D	Supports Neomorphic	3	accepted	EID11043 SMARCA2 mutations K755R and R1159Q are seen in Nicolaides-Barraitser syndrome (NCBRS) (PMID: 22366787). To evaluate the effects of these mutations, CRISPR/Cas9 was used to introduce heterozygous K755R… (full text at CIViC) PMID 31375262 · Gao et al., 2019 · Open in CIViC	civic
SMARCA2 R1159Q1
(functional)	—UNRESOLVED	Functional	D	Supports Neomorphic	3	accepted	EID11042 SMARCA2 mutations K755R and R1159Q are seen in Nicolaides-Barraitser syndrome (NCBRS) (PMID: 22366787). To evaluate the effects of these mutations, CRISPR/Cas9 was used to introduce heterozygous K755R… (full text at CIViC) PMID 31375262 · Gao et al., 2019 · Open in CIViC	civic