Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.T269I

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.T269I
c.806C>T
Surrounding Variants
1 paper
NM_017882.3
p.L270F
c.808C>T
2 papers
NM_017882.3
p.L270P
c.809T>C
1 paper
NM_017882.3
p.T269_L270delFs
c.807_808delGG
1 paper
NM_017882.3
p.L271W
c.812T>G
1 paper
NM_017882.3
p.F266_A267delFs
c.796_799del4
1 paper
NM_017882.3
p.A267_L268ins4
c.799_803ins12
1 paper
NM_017882.3
p.A267T
c.799G>A
2 papers
NM_017882.3
p.S265_F266del2
c.793_797del6
1 paper
NM_017882.3
p.F266F
c.798C>T
1 paper
NM_017882.3
p.L272V
c.814C>G
1 paper
NM_017882.3
p.L272_V273ins4
c.814_818ins12
1 paper
NM_017882.3
p.L272P
c.815T>C
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