Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.F186S

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.F186S
c.557T>C
Surrounding Variants
1 paper
NM_017882.3
p.F185_F186insFs
c.555_556insC
1 paper
NM_017882.3
p.F186fs
c.556_557fs
2 papers
NM_017882.3
p.L187P
c.560T>C
1 paper
NM_017882.3
p.P184insFs
c.552dupC
3 papers
NM_017882.3
p.P184delFs
c.552delG
4 papers
NM_017882.3
p.F185fs
c.553_554fs
1 paper
NM_017882.3
p.P184R
c.551C>G
1 paper
NM_017882.3
p.I183N
c.548T>A
1 paper
NM_017882.3
p.Y182S
c.545A>C
1 paper
NM_017882.3
p.W181*
c.543G>A
4 papers
NM_017882.3
p.W181Splc
c.543-1G>C
2 papers
NM_017882.3
p.W181Splc
c.543-1G>A
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