GAA c.85C>G ;(p.H29D)

Variant ID: 17-78078470-C-G

NM_000152.3(GAA):c.85C>G;(p.H29D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: GAA: 85C>G
PubMed Link: 35017693
Variant Present in the following documents:
  • 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.

Nature Communications
Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP
Publication Date: 2019-07-02

Variant appearance in text: GAA: 85C>G
PubMed Link: 31266935
Variant Present in the following documents:
  • 41467_2019_10510_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



p31comet-Induced Cell Death Is Mediated by Binding and Inactivation of Mad2.

Plos One
Shin, Hyun-Jin HJ; Park, Eun-Ran ER; Yun, Sun-Hee SH; Kim, Su-Hyeon SH; Jung, Won-Hee WH; Woo, Seon Rang SR; Joo, Hyun-Yoo HY; Jang, Su Hwa SH; Chung, Hee Yong HY; Hong, Sung Hee SH; Cho, Myung-Haing MH; Park, Joong-Jean JJ; Yun, Miyong M; Lee, Kee-Ho KH
Publication Date: 2015

Variant appearance in text: GAA: H29D
PubMed Link: 26544187
Variant Present in the following documents:
  • Main text
  • pone.0141523.pdf
View BVdb publication page