TUBA1A c.1306G>C ;(p.G436R)

Variant ID: 12-49578843-C-G

NM_006009.3(TUBA1A):c.1306G>C;(p.G436R)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: TUBA1A: 1306G>C; Gly436Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: TUBA1A: 1306G>C; Gly436Arg
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European Journal Of Human Genetics : Ejhg
Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S
Publication Date: 2022-03

Variant appearance in text: TUBA1A: 1306G>C; G436R
PubMed Link: 35017693
Variant Present in the following documents:
  • 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Modeling a disease-correlated tubulin mutation in budding yeast reveals insight into MAP-mediated dynein function.

Molecular Biology Of The Cell
Denarier, E E; Ecklund, K H KH; Berthier, G G; Favier, A A; O'Toole, E T ET; Gory-Fauré, S S; De Macedo, L L; Delphin, C C; Andrieux, A A; Markus, S M SM; Boscheron, C C
Publication Date: 2021-10-01

Variant appearance in text: TUBA1A: G436R
PubMed Link: 34379441
Variant Present in the following documents:
  • Main text
  • mbc-32-ar10.pdf
View BVdb publication page



The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Orphanet Journal Of Rare Diseases
Hebebrand, Moritz M; Hüffmeier, Ulrike U; Trollmann, Regina R; Hehr, Ute U; Uebe, Steffen S; Ekici, Arif B AB; Kraus, Cornelia C; Krumbiegel, Mandy M; Reis, André A; Thiel, Christian T CT; Popp, Bernt B
Publication Date: 2019-02-11

Variant appearance in text: TUBA3: 1306G>C
PubMed Link: 30744660
Variant Present in the following documents:
  • 13023_2019_1020_MOESM2_ESM.xlsx, sheet 2
  • 13023_2019_1020_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.

Journal Of Developmental Biology
Aiken, Jayne J; Buscaglia, Georgia G; Bates, Emily A EA; Moore, Jeffrey K JK
Publication Date: 2017-09

Variant appearance in text: TUBA1A: G436R
PubMed Link: 29057214
Variant Present in the following documents:
  • Main text
  • jdb-05-00008.pdf
View BVdb publication page



The cytoskeletal arrangements necessary to neurogenesis.

Oncotarget
Compagnucci, Claudia C; Piemonte, Fiorella F; Sferra, Antonella A; Piermarini, Emanuela E; Bertini, Enrico E
Publication Date: 2016-04-12

Variant appearance in text: TUBA1A: G436R
PubMed Link: 26760504
Variant Present in the following documents:
  • oncotarget-07-19414-s001.pdf
View BVdb publication page



TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.

Scientific Reports
Yokoi, Setsuri S; Ishihara, Naoko N; Miya, Fuyuki F; Tsutsumi, Makiko M; Yanagihara, Itaru I; Fujita, Naoko N; Yamamoto, Hiroyuki H; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Tsunoda, Tatsuhiko T; Yamasaki, Mami M; Kanemura, Yonehiro Y; Kosaki, Kenjiro K; Kojima, Seiji S; Saitoh, Shinji S; Kurahashi, Hiroki H; Natsume, Jun J
Publication Date: 2015-10-23

Variant appearance in text: TUBA1A: G436R
PubMed Link: 26493046
Variant Present in the following documents:
  • srep15165-s1.pdf
View BVdb publication page



Cytoarchitectural disruption of the superior colliculus and an enlarged acoustic startle response in the Tuba1a mutant mouse.

Neuroscience
Edwards, A A; Treiber, C D CD; Breuss, M M; Pidsley, R R; Huang, G-J GJ; Cleak, J J; Oliver, P L PL; Flint, J J; Keays, D A DA
Publication Date: 2011-11-10

Variant appearance in text: TUBA1A: G436R
PubMed Link: 21875651
Variant Present in the following documents:
  • Main text
View BVdb publication page