PCSK2 c.731C>A ;(p.P244Q)

Variant ID: 20-17417374-C-A

NM_002594.3(PCSK2):c.731C>A;(p.P244Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: P244Q
PubMed Link: 28719828
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs17854040
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page