Bibliome.ai browser hg19
Search
About
Stats
FAQ
PCSK2 c.367G>A ;(p.D123N)
Variant ID: 20-17339056-G-A
NM_002594.3(
PCSK2
):c.367G>A;(p.D123N)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: D123N
PubMed Link:
28719828
Variant Present in the following documents:
Main text
View BVdb publication page
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05
Variant appearance in text: PCSK2: D123N
PubMed Link:
27377421
Variant Present in the following documents:
ncomms12072-s6.xlsx, sheet 1
View BVdb publication page