PCSK2 c.1202+1120T>C

Variant ID: 20-17438213-T-C

NM_002594.3(PCSK2):c.1202+1120T>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mouse Models of Human Proprotein Convertase Insufficiency.

Endocrine Reviews
Shakya, Manita M; Lindberg, Iris I
Publication Date: 2021-05-25

Variant appearance in text: rs2284912
PubMed Link: 33382413
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional analysis of PCSK2 coding variants: A founder effect in the Old Order Amish population.

Diabetes Research And Clinical Practice
Winters, Alexandra A; Ramos-Molina, Bruno B; Jarvela, Timothy S TS; Yerges-Armstrong, Laura L; Pollin, Toni I TI; Lindberg, Iris I
Publication Date: 2017-09

Variant appearance in text: rs2284912
PubMed Link: 28719828
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms of PCSK2 are associated with glucose homeostasis and progression to type 2 diabetes in a Chinese population.

Scientific Reports
Chang, Tien-Jyun TJ; Chiu, Yen-Feng YF; Sheu, Wayne H-H WH; Shih, Kuang-Chung KC; Hwu, Chii-Min CM; Quertermous, Thomas T; Jou, Yuh-Shan YS; Kuo, Shan-Shan SS; Chang, Yi-Cheng YC; Chuang, Lee-Ming LM
Publication Date: 2015-11-26

Variant appearance in text: rs2284912
PubMed Link: 26607656
Variant Present in the following documents:
  • Main text
  • srep14380.pdf
View BVdb publication page