COL4A5 c.85T>C ;(p.C29R)

Variant ID: X-107782979-T-C

NM_033380.2(COL4A5):c.85T>C;(p.C29R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Low dinosaur biodiversity in central China 2 million years prior to the end-Cretaceous mass extinction.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Han, Fei F; Wang, Qiang Q; Wang, Huapei H; Zhu, Xufeng X; Zhou, Xinying X; Wang, Zhixiang Z; Fang, Kaiyong K; Stidham, Thomas A TA; Wang, Wei W; Wang, Xiaolin X; Li, Xiaoqiang X; Qin, Huafeng H; Fan, Longgang L; Wen, Chen C; Luo, Jianhong J; Pan, Yongxin Y; Deng, Chenglong C
Publication Date: 2022-09-27

Variant appearance in text: ATS: C29r
PubMed Link: 36122246
Variant Present in the following documents:
  • pnas.2211234119.sapp.pdf
View BVdb publication page



NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.

Iscience
Omachi, Kohei K; Kai, Hirofumi H; Roberge, Michel M; Miner, Jeffrey H JH
Publication Date: 2022-03-18

Variant appearance in text: COL4A5: C29R
PubMed Link: 35243249
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page