Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.G123D

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
11 papers
NM_017882.3
p.G123D
c.368G>A
Surrounding Variants
1 paper
NM_017882.3
p.G123S
c.367G>A
2 papers
NM_017882.3
p.F120_M122del0
c.358_366del9
2 papers
NM_017882.3
p.M122L
c.364A>T
2 papers
NM_017882.3
p.S125G
c.373A>G
1 paper
NM_017882.3
p.I126T
c.377T>C
1 paper
NM_017882.3
p.H127Y
c.379C>T
1 paper
NM_017882.3
p.L128V
c.382C>G
1 paper
NM_017882.3
p.S116_I117del2
c.346_350del6
3 papers
NM_017882.3
p.I117S
c.350T>G
1 paper
NM_017882.3
p.V129A
c.386T>C
1 paper
NM_017882.3
p.V129V
c.387G>A
2 papers
NM_017882.3
p.S116R
c.348C>G
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