Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.I154_K155del1

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
24 papers
NM_017882.3
p.I154_K155del1
c.461_463delTGA
Surrounding Variants
1 paper
NM_017882.3
p.N156_L157delins
c.468_469delinsCC
1 paper
NM_017882.3
p.I154V
c.460A>G
1 paper
NM_017882.3
p.I153S
c.458T>G
3 papers
NM_017882.3
p.K158Q
c.472A>C
8 papers
NM_017882.3
p.P159L
c.476C>T
1 paper
NM_017882.3
p.N151T
c.452A>C
1 paper
NM_017882.3
p.N151H
c.451A>C
1 paper
NM_017882.3
p.E150V
c.449A>T
1 paper
NM_017882.3
p.E150_N151insC
c.448_452ins3
8 papers
NM_017882.3
p.R149H
c.446G>A
1 paper
NM_017882.3
p.T161R
c.482C>G
6 papers
NM_017882.3
p.R149C
c.445C>T
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