CLU c.1187C>G ;(p.S396W)

Variant ID: 8-27456130-G-C

NM_001831.3(CLU):c.1187C>G;(p.S396W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05

Variant appearance in text: rs13494
PubMed Link: 32457125
Variant Present in the following documents:
  • jitc-2019-000204supp003.xlsx, sheet 3
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: rs13494
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk.

Molecular Neurodegeneration
Bettens, Karolien K; Brouwers, Nathalie N; Engelborghs, Sebastiaan S; Lambert, Jean-Charles JC; Rogaeva, Ekaterina E; Vandenberghe, Rik R; Le Bastard, Nathalie N; Pasquier, Florence F; Vermeulen, Steven S; Van Dongen, Jasper J; Mattheijssens, Maria M; Peeters, Karin K; Mayeux, Richard R; St George-Hyslop, Peter P; Amouyel, Philippe P; De Deyn, Peter P PP; Sleegers, Kristel K; Van Broeckhoven, Christine C
Publication Date: 2012-01-16

Variant appearance in text: rs13494
PubMed Link: 22248099
Variant Present in the following documents:
  • Main text
  • 1750-1326-7-3.pdf
View BVdb publication page