Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.L262L

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.L262L
c.786C>G
Surrounding Variants
1 paper
NM_017882.3
p.L255_L262del0
c.765_785del21
1 paper
NM_017882.3
p.L262del1
c.784_785delGAG
1 paper
NM_017882.3
p.S264S
c.792C>G
1 paper
NM_017882.3
p.S265F
c.794C>T
3 papers
NM_017882.3
p.G259V
c.776G>T
1 paper
NM_017882.3
p.F266fs
c.796_797fs
23 papers
NM_017882.3
p.S265del1
c.793_794delGGA
2 papers
NM_017882.3
p.G259C
c.775G>T
1 paper
NM_017882.3
p.G259R
c.775G>C
5 papers
NM_017882.3
p.G259S
c.775G>A
1 paper
NM_017882.3
p.F266F
c.798C>T
1 paper
NM_017882.3
p.A267_L268ins4
c.799_803ins12
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