PC c.352T>C ;(p.Y118H)

Variant ID: 11-66638921-A-G

NM_001040716.1(PC):c.352T>C;(p.Y118H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: PC: 352T>C
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity.

Diabetes
Creemers, John W M JW; Choquet, Hélène H; Stijnen, Pieter P; Vatin, Vincent V; Pigeyre, Marie M; Beckers, Sigri S; Meulemans, Sandra S; Than, Manuel E ME; Yengo, Loïc L; Tauber, Maithé M; Balkau, Beverley B; Elliott, Paul P; Jarvelin, Marjo-Riitta MR; Van Hul, Wim W; Van Gaal, Luc L; Horber, Fritz F; Pattou, François F; Froguel, Philippe P; Meyre, David D
Publication Date: 2012-02

Variant appearance in text: PC: Y118H
PubMed Link: 22210313
Variant Present in the following documents:
  • Main text
  • 383.pdf
View BVdb publication page