SMARCA2 c.4717G>A ;(p.D1573N)

Variant ID: 9-2191388-G-A

NM_003070.3(SMARCA2):c.4717G>A;(p.D1573N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: N/A
PubMed Link: 36755093
Variant Present in the following documents:
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: rs61736899
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, sheet 1
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The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Vandeweyer, Geert G; Helsmoortel, Céline C; Van Dijck, Anke A; Vulto-van Silfhout, Anneke T AT; Coe, Bradley P BP; Bernier, Raphael R; Gerdts, Jennifer J; Rooms, Liesbeth L; van den Ende, Jenneke J; Bakshi, Madhura M; Wilson, Meredith M; Nordgren, Ann A; Hendon, Laura G LG; Abdulrahman, Omar A OA; Romano, Corrado C; de Vries, Bert B A BB; Kleefstra, Tjitske T; Eichler, Evan E EE; Van der Aa, Nathalie N; Kooy, R Frank RF
Publication Date: 2014-09

Variant appearance in text: SMARCA2: D1573N
PubMed Link: 25169753
Variant Present in the following documents:
  • Main text
View BVdb publication page