PCSK2 c.886-1308T>A

Variant ID: 20-17433079-T-A

NM_002594.3(PCSK2):c.886-1308T>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2269023
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: rs2269023
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: rs2269023
PubMed Link: 26607656
Variant Present in the following documents:
  • Main text
  • srep14380.pdf
View BVdb publication page



Association of the proprotein convertase subtilisin/kexin-type 2 (PCSK2) gene with type 2 diabetes in an African American population.

Molecular Genetics And Metabolism
Leak, Tennille S TS; Keene, Keith L KL; Langefeld, Carl D CD; Gallagher, Carla J CJ; Mychaleckyj, Josyf C JC; Freedman, Barry I BI; Bowden, Donald W DW; Rich, Stephen S SS; Sale, Michèle M MM
Publication Date: 2007

Variant appearance in text: rs2269023
PubMed Link: 17618154
Variant Present in the following documents:
  • Main text
View BVdb publication page