Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.I117S

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
3 papers
NM_017882.3
p.I117S
c.350T>G
Surrounding Variants
2 papers
NM_017882.3
p.S116R
c.348C>G
2 papers
NM_017882.3
p.S116R
c.348C>A
1 paper
NM_017882.3
p.S116_I117del2
c.346_350del6
2 papers
NM_017882.3
p.S116R
c.346A>C
1 paper
NM_017882.3
p.V115E
c.344T>A
1 paper
NM_017882.3
p.Y114*
c.342C>G
1 paper
NM_017882.3
p.T113T
c.339G>C
1 paper
NM_017882.3
p.T113M
c.338C>T
2 papers
NM_017882.3
p.M122L
c.364A>T
1 paper
NM_017882.3
p.G123S
c.367G>A
2 papers
NM_017882.3
p.F120_M122del0
c.358_366del9
11 papers
NM_017882.3
p.G123D
c.368G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."