PCSK2 c.1706C>T ;(p.T569I)

Variant ID: 20-17462504-C-T

NM_002594.3(PCSK2):c.1706C>T;(p.T569I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Biomarker Research
Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC
Publication Date: 2021-10-09

Variant appearance in text: PCSK2: T569I; rs200384798
PubMed Link: 34635181
Variant Present in the following documents:
  • 40364_2021_330_MOESM2_ESM.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: PCSK2: T569I; rs200384798
PubMed Link: 28719828
Variant Present in the following documents:
  • Main text
View BVdb publication page