Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.S336Y

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.S336Y
c.1007C>A
Surrounding Variants
1 paper
NM_001042432.2
p.R338L
c.1013G>T
34 papers
NM_001042432.2
p.R334H
c.1001G>A
1 paper
NM_001042432.2
p.R338H
c.1013G>A
25 papers
NM_001042432.2
p.R334C
c.1000C>T
1 paper
NM_001042432.2
p.S333F
c.998C>T
1 paper
NM_001042432.2
p.C340_R341insT
c.1018_1022ins3
1 paper
NM_001042432.2
p.A332V
c.995C>T
18 papers
NM_001042432.2
p.V330F
c.988G>T
1 paper
NM_001042432.2
p.V330L
c.988G>C
5 papers
NM_001042432.2
p.V330I
c.988G>A
1 paper
NM_001042432.2
p.R343C
c.1027C>T
1 paper
NM_001042432.2
p.G329delFs
c.986delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."