Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.V133I

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.V133I
c.397G>A
Surrounding Variants
3 papers
NM_017882.3
p.S132insFs
c.396dupT
11 papers
NM_017882.3
p.S132delFs
c.395_396delAG
1 paper
NM_017882.3
p.S132del1
c.394_395delAGA
1 paper
NM_017882.3
p.V133fs
c.397_398fs
1 paper
NM_017882.3
p.S132fs
c.394_395fs
1 paper
NM_017882.3
p.V133fs
c.397_398fs
1 paper
NM_017882.3
p.V133delFs
c.397_398delAC
3 papers
NM_017882.3
p.S132fs
c.394_395fs
3 papers
NM_017882.3
p.N134H
c.400A>C
8 papers
NM_017882.3
p.R136C
c.406C>T
4 papers
NM_017882.3
p.R136H
c.407G>A
1 paper
NM_017882.3
p.V129V
c.387G>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."