Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.D59E

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.D59E
c.177C>A
Surrounding Variants
2 papers
NM_017882.3
p.D59E
c.177C>G
1 paper
NM_017882.3
p.L53_D59del0
c.159_176del18
1 paper
NM_017882.3
p.G61_R62insFs
c.183_184ins20
20 papers
NM_017882.3
p.R62C
c.184C>T
1 paper
NM_017882.3
p.V57F
c.169G>T
4 papers
NM_017882.3
p.R62H
c.185G>A
1 paper
NM_017882.3
p.W56C
c.168G>T
1 paper
NM_017882.3
p.W56C
c.168G>C
1 paper
NM_017882.3
p.W56delFs
c.166_167delCA
1 paper
NM_017882.3
p.W56R
c.166T>C
1 paper
NM_017882.3
p.W56R
c.166T>A
1 paper
NM_017882.3
p.N55delFs
c.164delT
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