GSN c.487G>A ;(p.D163N)

Variant ID: 9-124073097-G-A

NM_198252.2(GSN):c.487G>A;(p.D163N)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.

Frontiers In Immunology
Mørup, Sara Bohnstedt SB; Nazaryan-Petersen, Lusine L; Gabrielaite, Migle M; Reekie, Joanne J; Marquart, Hanne V HV; Hartling, Hans Jakob HJ; Marvig, Rasmus L RL; Katzenstein, Terese L TL; Masmas, Tania N TN; Lundgren, Jens J; Murray, Daniel D DD; Helleberg, Marie M; Borgwardt, Line L
Publication Date: 2022

Variant appearance in text: GSN: 487G>A; Asp163Asn
PubMed Link: 35874679
Variant Present in the following documents:
  • Main text
  • fimmu-13-906328.pdf
View BVdb publication page



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: GSN: 487G>A; D163N
PubMed Link: 32457125
Variant Present in the following documents:
  • jitc-2019-000204supp003.xlsx, sheet 3
View BVdb publication page



Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.

European Journal Of Human Genetics : Ejhg
Mustonen, Tuuli T; Schmidt, Eeva-Kaisa EK; Valori, Miko M; Tienari, Pentti J PJ; Atula, Sari S; Kiuru-Enari, Sari S
Publication Date: 2018-01

Variant appearance in text: rs121909715
PubMed Link: 29167514
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: GSN: D163N; rs121909715
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.

Muscle & Nerve
Caress, James B JB; Johnson, Janel O JO; Abramzon, Yevgeniya A YA; Hawkins, Gregory A GA; Gibbs, J Raphael JR; Sullivan, Elizabeth A EA; Chahal, Chamanpreet S CS; Traynor, Bryan J BJ
Publication Date: 2017-11

Variant appearance in text: rs121909715
PubMed Link: 28039894
Variant Present in the following documents:
  • Main text
View BVdb publication page