PC c.442A>G ;(p.K148E)

Variant ID: 11-66638831-T-C

NM_001040716.1(PC):c.442A>G;(p.K148E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The AAA + ATPase TorsinA polymerizes into hollow helical tubes with 8.5 subunits per turn.

Nature Communications
Demircioglu, F Esra FE; Zheng, Weili W; McQuown, Alexander J AJ; Maier, Nolan K NK; Watson, Nicki N; Cheeseman, Iain M IM; Denic, Vladimir V; Egelman, Edward H EH; Schwartz, Thomas U TU
Publication Date: 2019-07-22

Variant appearance in text: PC: K148E
PubMed Link: 31332180
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_11194.pdf
View BVdb publication page



Structural basis of intramitochondrial phosphatidic acid transport mediated by Ups1-Mdm35 complex.

Embo Reports
Yu, Fang F; He, Fangyuan F; Yao, Hongyan H; Wang, Chengyuan C; Wang, Jianchuan J; Li, Jianxu J; Qi, Xiaofeng X; Xue, Hongwei H; Ding, Jianping J; Zhang, Peng P
Publication Date: 2015-07

Variant appearance in text: PC: K148E
PubMed Link: 26071601
Variant Present in the following documents:
  • Main text
View BVdb publication page