TG c.577del ;(p.Q193Sfs*10)

Variant ID: 8-133885403-TC-T

NM_003235.4(TG):c.577del;(p.Q193Sfs*10)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Efficient biosynthesis of (R)-mandelic acid from styrene oxide by an adaptive evolutionary Gluconobacter oxydans STA.

Biotechnology For Biofuels And Bioproducts
Liu, Fei F; Zhou, Junping J; Hu, Mengkai M; Chen, Yan Y; Han, Jin J; Pan, Xuewei X; You, Jiajia J; Xu, Meijuan M; Yang, Taowei T; Shao, Minglong M; Zhang, Xian X; Rao, Zhiming Z
Publication Date: 2023-01-13

Variant appearance in text: TG: 577delC
PubMed Link: 36639820
Variant Present in the following documents:
  • 13068_2023_2258_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine
Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N
Publication Date: 2022-04-26

Variant appearance in text: TG: 577delC
PubMed Link: 35468861
Variant Present in the following documents:
  • 13073_2022_1042_MOESM2_ESM.xls, sheet 8
View BVdb publication page



Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.

Frontiers In Oncology
Hu, Bin B; Ma, Xiumei X; Huang, Renhua R; Wu, Zheng Z; Lu, Jun J; Guo, Yuntao Y; Tang, Jianmin J; Ma, Chunhui C; Ma, Jun J; Zhang, Lei L; Bai, Yongrui Y
Publication Date: 2021

Variant appearance in text: TG: 577delC; Gln193fs
PubMed Link: 34434896
Variant Present in the following documents:
  • DataSheet_6.xlsx, sheet 1
View BVdb publication page



LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.

Lipids In Health And Disease
Mehta, Roopa R; Elías-López, Daniel D; Martagón, Alexandro J AJ; Pérez-Méndez, Oscar A OA; Sánchez, Maria Luisa Ordóñez MLO; Segura, Yayoi Y; Tusié, Maria Teresa MT; Aguilar-Salinas, Carlos A CA
Publication Date: 2021-07-13

Variant appearance in text: TG: 576delC
PubMed Link: 34256778
Variant Present in the following documents:
  • Main text
View BVdb publication page



The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology
Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A
Publication Date: 2021-02-05

Variant appearance in text: TG: 577delC
PubMed Link: 33546694
Variant Present in the following documents:
  • 12915_2021_962_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page