The GSN gene homepage

General information
Gene symbol GSN
Gene name gelsolin
Chromosome 9
Chromosomal band q33
Imprinted Unknown
Genomic reference NG_012872.2
Transcript reference NM_000177.4
Exon/intron information NM_000177.4 exon/intron table
Associated with diseases FAF
Citation reference(s) PubMed: Levy et al. 1990, PubMed: Maury et al. 1990, PubMed: Hiltunen et al. 1991
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 67
Unique public DNA variants reported 40
Individuals with public variants 177
Hidden variants 19
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created August 30, 2012
Date last updated September 17, 2021
Version GSN:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000177.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 4620
Entrez Gene 2934
PubMed articles GSN
OMIM - Gene 137350
OMIM - Diseases FAF (amyloidosis, Finnish type (type V) (FAF))
GeneCards GSN
GeneTests GSN
Orphanet GSN

Active transcripts




NCBI ID     

NCBI Protein ID     

00000283 9 transcript variant 1 NM_000177.4 NP_000168.1 67

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.