Varaico: Literature-Extracted Genetic Variants

Gene:CLN6

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
1–12 of 377 variants
27 papers
NM_017882.3
p.E72*
c.214G>T
24 papers
NM_017882.3
p.I154_K155del1
c.461_463delTGA
23 papers
NM_017882.3
p.S265del1
c.793_794delGGA
20 papers
NM_017882.3
p.R62C
c.184C>T
18 papers
NM_017882.3
p.R106insFs
c.316dupC
13 papers
NM_017882.3
p.R103insFs
c.307_308insC
12 papers
NM_017882.3
p.D256E
c.768C>G
12 papers
NM_017882.3
p.P299L
c.896C>T
11 papers
NM_017882.3
p.G123D
c.368G>A
11 papers
NM_017882.3
p.S132delFs
c.395_396delAG
11 papers
NM_017882.3
p.Y221S
c.662A>C
11 papers
NM_017882.3
p.D256E
c.768C>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."