TG c.2020G>C ;(p.G674R)

Variant ID: 8-133899637-G-C

NM_003235.4(TG):c.2020G>C;(p.G674R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Systematic prediction of degrons and E3 ubiquitin ligase binding via deep learning.

Bmc Biology
Hou, Chao C; Li, Yuxuan Y; Wang, Mengyao M; Wu, Hong H; Li, Tingting T
Publication Date: 2022-07-14

Variant appearance in text: TG: G674R
PubMed Link: 35836176
Variant Present in the following documents:
  • 12915_2022_1364_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Features of chinese patients with sitosterolemia.

Lipids In Health And Disease
Zhou, Zhizi Z; Su, Xueying X; Cai, Yanna Y; Ting, Tzer Hwu TH; Zhang, Wen W; Lin, Yunting Y; Xu, Aijing A; Mao, Xiaojian X; Zeng, Chunhua C; Liu, Li L; Li, Xiuzhen X
Publication Date: 2022-01-18

Variant appearance in text: TG: Gly674Arg
PubMed Link: 35042526
Variant Present in the following documents:
  • Main text
  • 12944_2021_Article_1619.pdf
View BVdb publication page



Features of chinese patients with sitosterolemia.

Lipids In Health And Disease
Zhou, Zhizi Z; Su, Xueying X; Cai, Yanna Y; Ting, Tzer Hwu TH; Zhang, Wen W; Lin, Yunting Y; Xu, Aijing A; Mao, Xiaojian X; Zeng, Chunhua C; Liu, Li L; Li, Xiuzhen X
Publication Date: 2022-01-18

Variant appearance in text: TG: Gly674Arg
PubMed Link: 35042526
Variant Present in the following documents:
  • Main text
  • 12944_2021_Article_1619.pdf
View BVdb publication page



Integrated genomic analyses reveal frequent TERT aberrations in acral melanoma.

Genome Research
Liang, Winnie S WS; Hendricks, William W; Kiefer, Jeffrey J; Schmidt, Jessica J; Sekar, Shobana S; Carpten, John J; Craig, David W DW; Adkins, Jonathan J; Cuyugan, Lori L; Manojlovic, Zarko Z; Halperin, Rebecca F RF; Helland, Adrienne A; Nasser, Sara S; Legendre, Christophe C; Hurley, Laurence H LH; Sivaprakasam, Karthigayini K; Johnson, Douglas B DB; Crandall, Holly H; Busam, Klaus J KJ; Zismann, Victoria V; Deluca, Valerie V; Lee, Jeeyun J; Sekulic, Aleksandar A; Ariyan, Charlotte E CE; Sosman, Jeffrey J; Trent, Jeffrey J
Publication Date: 2017-04

Variant appearance in text: TG: G674R
PubMed Link: 28373299
Variant Present in the following documents:
  • supp_gr.213348.116_Supplemental_Tables.xlsx, sheet 6
View BVdb publication page



Wolfram syndrome: new mutations, different phenotype.

Plos One
Aloi, Concetta C; Salina, Alessandro A; Pasquali, Lorenzo L; Lugani, Francesca F; Perri, Katia K; Russo, Chiara C; Tallone, Ramona R; Ghiggeri, Gian Marco GM; Lorini, Renata R; d'Annunzio, Giuseppe G
Publication Date: 2012

Variant appearance in text: TG: G674R
PubMed Link: 22238590
Variant Present in the following documents:
  • pone.0029150.pdf
View BVdb publication page