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HSF2 c.529_530delinsGC ;(p.K177A)
Variant ID: 6-122737439-AA-GC
NM_004506.3(
HSF2
):c.529_530delinsGC;(p.K177A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
Nature Communications
de Thonel, Aurélie A; Ahlskog, Johanna K JK; Daupin, Kevin K; Dubreuil, Véronique V; Berthelet, Jérémy J; Chaput, Carole C; Pires, Geoffrey G; Leonetti, Camille C; Abane, Ryma R; Barris, Lluís Cordón LC; Leray, Isabelle I; Aalto, Anna L AL; Naceri, Sarah S; Cordonnier, Marine M; Benasolo, Carène C; Sanial, Matthieu M; Duchateau, Agathe A; Vihervaara, Anniina A; Puustinen, Mikael C MC; Miozzo, Federico F; Fergelot, Patricia P; Lebigot, Élise É; Verloes, Alain A; Gressens, Pierre P; Lacombe, Didier D; Gobbo, Jessica J; Garrido, Carmen C; Westerheide, Sandy D SD; David, Laurent L; Petitjean, Michel M; Taboureau, Olivier O; Rodrigues-Lima, Fernando F; Passemard, Sandrine S; Sabéran-Djoneidi, Délara D; Nguyen, Laurent L; Lancaster, Madeline M; Sistonen, Lea L; Mezger, Valérie V
Publication Date: 2022-11-16
Variant appearance in text: HSF2: K177A
PubMed Link:
36385105
Variant Present in the following documents:
Main text
41467_2022_Article_34476.pdf
41467_2022_34476_MOESM1_ESM.pdf
View BVdb publication page