Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.S308T

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
4 papers
NM_017882.3
p.S308T
c.923G>C
Surrounding Variants
2 papers
NM_017882.3
p.H306insFs
c.917_918dupAC
1 paper
NM_017882.3
p.R310P
c.929G>C
1 paper
NM_017882.3
p.R310Q
c.929G>A
1 paper
NM_017882.3
p.L305fs
c.913_914fs
1 paper
NM_017882.3
p.H311_*312insFs
c.933_934insCT
1 paper
NM_017882.3
p.H311_*312insFs
c.933_934ins4
1 paper
NM_017882.3
p.Y303*
c.909C>G
1 paper
NM_017882.3
p.Y303*
c.909C>A
1 paper
NM_017882.3
p.A301V
c.902C>T
8 papers
NM_017882.3
p.W300R
c.898T>C
8 papers
NM_017882.3
p.W300R
c.898T>A
2 papers
NM_017882.3
p.P291_P299delFs
c.872_897del26
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