Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.P105T

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.P105T
c.313C>A
Surrounding Variants
4 papers
NM_017882.3
p.S104F
c.311C>T
2 papers
NM_017882.3
p.R106C
c.316C>T
4 papers
NM_017882.3
p.R106fs
c.316_317fs
1 paper
NM_017882.3
p.R106L
c.317G>T
18 papers
NM_017882.3
p.R106insFs
c.316dupC
1 paper
NM_017882.3
p.R106P
c.317G>C
1 paper
NM_017882.3
p.R106H
c.317G>A
13 papers
NM_017882.3
p.R103insFs
c.307_308insC
2 papers
NM_017882.3
p.R103P
c.308G>C
10 papers
NM_017882.3
p.R103Q
c.308G>A
9 papers
NM_017882.3
p.R103W
c.307C>T
1 paper
NM_017882.3
p.L108M
c.322C>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."