TUBA1A c.390G>C ;(p.T130=)

Variant ID: 12-49579759-C-G

NM_006009.3(TUBA1A):c.390G>C;(p.T130=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.

Nature Communications
Sun, Guangxi G; Chen, Junru J; Liang, Jiayu J; Yin, Xiaoxue X; Zhang, Mengni M; Yao, Jin J; He, Ning N; Armstrong, Cameron M CM; Zheng, Linmao L; Zhang, Xingming X; Zhu, Sha S; Sun, Xiaomeng X; Yang, Xiaoxia X; Zhao, Wanbin W; Liao, Banghua B; Pan, Xiuyi X; Nie, Ling L; Yang, Ling L; Chen, Yuntian Y; Zhao, Jinge J; Zhang, Haoran H; Dai, Jindong J; Shen, Yali Y; Liu, Jiyan J; Huang, Rui R; Liu, Jiandong J; Wang, Zhipeng Z; Ni, Yuchao Y; Wei, Qiang Q; Li, Xiang X; Zhou, Qiao Q; Huang, Haojie H; Liu, Zhenhua Z; Shen, Pengfei P; Chen, Ni N; Zeng, Hao H
Publication Date: 2021-09-06

Variant appearance in text: rs1143559
PubMed Link: 34489456
Variant Present in the following documents:
  • 41467_2021_25618_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: TUBA1A: T130T
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page