Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.Y220S

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
2 papers
NM_017882.3
p.Y220S
c.659A>C
Surrounding Variants
2 papers
NM_017882.3
p.L219Q
c.656T>A
7 papers
NM_017882.3
p.Y221C
c.662A>G
11 papers
NM_017882.3
p.Y221S
c.662A>C
3 papers
NM_017882.3
p.Y221*
c.663C>G
3 papers
NM_017882.3
p.Y221*
c.663C>A
2 papers
NM_017882.3
p.W222Splc
c.665+1G>T
1 paper
NM_017882.3
p.W222Splc
c.665+1G>A
1 paper
NM_017882.3
p.S217I
c.650G>T
2 papers
NM_017882.3
p.S217G
c.649A>G
1 paper
NM_017882.3
p.A210delFs
c.630delG
1 paper
NM_017882.3
p.G208E
c.623G>A
1 paper
NM_017882.3
p.A202V
c.605C>T
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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."