Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.N258S

CLN6

297 papers

RefSeq Summary

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative diso...

Pfam Domains

CLN6aa 30–309UCSCCeroid-lipofuscinosis neuronal protein 6

Gene Aliases

HGNC Name

CLN6 transmembrane ER protein

HGNC Alias Symbols

FLJ20561; HsT18960; nclf

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017882.3
p.N258S
c.773A>G
Surrounding Variants
2 papers
NM_017882.3
p.G259C
c.775G>T
1 paper
NM_017882.3
p.G259R
c.775G>C
5 papers
NM_017882.3
p.G259S
c.775G>A
3 papers
NM_017882.3
p.G259V
c.776G>T
1 paper
NM_017882.3
p.S257fs
c.769_770fs
1 paper
NM_017882.3
p.S257G
c.769A>G
12 papers
NM_017882.3
p.D256E
c.768C>G
11 papers
NM_017882.3
p.D256E
c.768C>A
1 paper
NM_017882.3
p.L255P
c.764T>C
1 paper
NM_017882.3
p.L255L
c.763C>T
1 paper
NM_017882.3
p.F254L
c.762C>G
1 paper
NM_017882.3
p.F254L
c.762C>A
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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."