Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.S198A

CLN3

436 papers

RefSeq Summary

This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as B...

Pfam Domains

CLN3aa 39–437UCSCCLN3 protein

Gene Aliases

HGNC Name

CLN3 lysosomal/endosomal transmembrane protein, battenin

HGNC Previous Symbol

BTS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001042432.2
p.S198A
c.592T>G
Surrounding Variants
1 paper
NM_001042432.2
p.L197delFs
c.591delC
15 papers
NM_001042432.2
p.Y199*
c.597C>G
5 papers
NM_001042432.2
p.A196insFs
c.586dupG
1 paper
NM_001042432.2
p.Y199fs
c.595_596fs
15 papers
NM_001042432.2
p.Y199*
c.597C>A
1 paper
NM_001042432.2
p.Y199Fs
c.596_597delinsTFs
1 paper
NM_001042432.2
p.A196fs
c.586_587fs
1 paper
NM_001042432.2
p.G195G
c.585G>C
1 paper
NM_001042432.2
p.G195R
c.583G>C
1 paper
NM_001042432.2
p.L194L
c.582G>T
1 paper
NM_001042432.2
p.G201D
c.602G>A
5 papers
NM_001042432.2
p.G192E
c.575G>A
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