Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.R252P

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.R252P
c.755G>C
Surrounding Variants
1 paper
NM_017882.3
p.R252L
c.755G>T
9 papers
NM_017882.3
p.R252H
c.755G>A
1 paper
NM_017882.3
p.F254L
c.760T>C
1 paper
NM_017882.3
p.L253del1
c.757_758delGAG
1 paper
NM_017882.3
p.R250P
c.749G>C
1 paper
NM_017882.3
p.R250C
c.748C>T
1 paper
NM_017882.3
p.F254L
c.762C>G
1 paper
NM_017882.3
p.F254L
c.762C>A
1 paper
NM_017882.3
p.L255L
c.763C>T
1 paper
NM_017882.3
p.L255P
c.764T>C
1 paper
NM_017882.3
p.Q248Q
c.744G>A
12 papers
NM_017882.3
p.D256E
c.768C>G
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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."