DISC1 c.1253G>A ;(p.R418H)

Variant ID: 1-231885807-G-A

NM_018662.2(DISC1):c.1253G>A;(p.R418H)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications
Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G
Publication Date: 2021-08-31

Variant appearance in text: DISC1: 1253G>A
PubMed Link: 34465776
Variant Present in the following documents:
  • 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Gopal, Raj K RK; Calvo, Sarah E SE; Shih, Angela R AR; Chaves, Frances L FL; McGuone, Declan D; Mick, Eran E; Pierce, Kerry A KA; Li, Yang Y; Garofalo, Andrea A; Van Allen, Eliezer M EM; Clish, Clary B CB; Oliva, Esther E; Mootha, Vamsi K VK
Publication Date: 2018-07-03

Variant appearance in text: DISC1: R418H
PubMed Link: 29915083
Variant Present in the following documents:
  • pnas.1711888115.sd01.xlsx, sheet 3
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: DISC1: 1253G>A; R418H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Missense mutation in DISC1 C-terminal coiled-coil has GSK3β signaling and sex-dependent behavioral effects in mice.

Scientific Reports
Dachtler, James J; Elliott, Christina C; Rodgers, R John RJ; Baillie, George S GS; Clapcote, Steven J SJ
Publication Date: 2016-01-05

Variant appearance in text: DISC1: R418H
PubMed Link: 26728762
Variant Present in the following documents:
  • Main text
  • srep18748.pdf
View BVdb publication page



708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits.

Molecular Psychiatry
Thomson, P A PA; Parla, J S JS; McRae, A F AF; Kramer, M M; Ramakrishnan, K K; Yao, J J; Soares, D C DC; McCarthy, S S; Morris, S W SW; Cardone, L L; Cass, S S; Ghiban, E E; Hennah, W W; Evans, K L KL; Rebolini, D D; Millar, J K JK; Harris, S E SE; Starr, J M JM; MacIntyre, D J DJ; , ; McIntosh, A M AM; Watson, J D JD; Deary, I J IJ; Visscher, P M PM; Blackwood, D H DH; McCombie, W R WR; Porteous, D J DJ
Publication Date: 2014-06

Variant appearance in text: DISC1: R418H
PubMed Link: 23732877
Variant Present in the following documents:
  • Main text
  • mp201368x3.pdf
  • mp201368a.pdf
View BVdb publication page



DISC1: Structure, Function, and Therapeutic Potential for Major Mental Illness.

Acs Chemical Neuroscience
Soares, Dinesh C DC; Carlyle, Becky C BC; Bradshaw, Nicholas J NJ; Porteous, David J DJ
Publication Date: 2011-11-16

Variant appearance in text: DISC1: R418H
PubMed Link: 22116789
Variant Present in the following documents:
  • Main text
  • cn200062k.pdf
View BVdb publication page



Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.

American Journal Of Medical Genetics. Part A
Osbun, Nathan N; Li, Jiang J; O'Driscoll, Mary C MC; Strominger, Zoe Z; Wakahiro, Mari M; Rider, Eric E; Bukshpun, Polina P; Boland, Elena E; Spurrell, Cailyn H CH; Schackwitz, Wendy W; Pennacchio, Len A LA; Dobyns, William B WB; Black, Graeme C M GC; Sherr, Elliott H EH
Publication Date: 2011-08

Variant appearance in text: DISC1: R418H
PubMed Link: 21739582
Variant Present in the following documents:
  • Main text
View BVdb publication page



DISC1-binding proteins in neural development, signalling and schizophrenia.

Neuropharmacology
Bradshaw, Nicholas J NJ; Porteous, David J DJ
Publication Date: 2012-03

Variant appearance in text: DISC1: R418H
PubMed Link: 21195721
Variant Present in the following documents:
  • Main text
View BVdb publication page