Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.F85L

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.F85L
c.255C>G
Surrounding Variants
2 papers
NM_017882.3
p.F85L
c.255C>A
1 paper
NM_017882.3
p.H86Y
c.256C>T
1 paper
NM_017882.3
p.F85del1
c.253_254delGAA
2 papers
NM_017882.3
p.F85L
c.253T>C
1 paper
NM_017882.3
p.H86R
c.257A>G
3 papers
NM_017882.3
p.Y84*
c.252C>G
3 papers
NM_017882.3
p.Y84*
c.252C>A
1 paper
NM_017882.3
p.Y84N
c.250T>A
1 paper
NM_017882.3
p.D83V
c.248A>T
2 papers
NM_017882.3
p.D83G
c.248A>G
1 paper
NM_017882.3
p.D83insFs
c.247dupG
1 paper
NM_017882.3
p.D83N
c.247G>A
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