TUBA1A c.811A>G ;(p.T271A)

Variant ID: 12-49579338-T-C

NM_006009.3(TUBA1A):c.811A>G;(p.T271A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Zika virus induces FOXG1 nuclear displacement and downregulation in human neural progenitors.

Stem Cell Reports
Lottini, Giulia G; Baggiani, Matteo M; Chesi, Giulia G; D'Orsi, Beatrice B; Quaranta, Paola P; Lai, Michele M; Pancrazi, Laura L; Onorati, Marco M; Pistello, Mauro M; Freer, Giulia G; Costa, Mario M
Publication Date: 2022-07-12

Variant appearance in text: TUBA1A: T271A
PubMed Link: 35714598
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
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: 811A>G; T271A
PubMed Link: 35017693
Variant Present in the following documents:
  • 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1
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: TUBA1A: 811A>G; Thr271Ala
PubMed Link: 30744660
Variant Present in the following documents:
  • 13023_2019_1020_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page