Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.Y89S

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.Y89S
c.266A>C
Surrounding Variants
1 paper
NM_017882.3
p.Y89_N90insFs
c.267_268ins4
2 papers
NM_017882.3
p.Y89delFs
c.265_266delTA
2 papers
NM_017882.3
p.N90insFs
c.268_269insC
1 paper
NM_017882.3
p.N90N
c.270C>T
3 papers
NM_017882.3
p.N90K
c.270C>G
3 papers
NM_017882.3
p.N90K
c.270C>A
1 paper
NM_017882.3
p.V91fs
c.271_272fs
1 paper
NM_017882.3
p.V91insFs
c.271dupG
4 papers
NM_017882.3
p.V91insFs
c.272_273ins4
1 paper
NM_017882.3
p.V91fs
c.271_272fs
1 paper
NM_017882.3
p.I92V
c.274A>G
1 paper
NM_017882.3
p.H86R
c.257A>G
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