Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.P299L

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
12 papers
NM_017882.3
p.P299L
c.896C>T
Surrounding Variants
1 paper
NM_017882.3
p.P299H
c.896C>A
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
1 paper
NM_017882.3
p.E298G
c.893A>G
4 papers
NM_017882.3
p.E298K
c.892G>A
7 papers
NM_017882.3
p.P297delFs
c.890delG
1 paper
NM_017882.3
p.A301V
c.902C>T
2 papers
NM_017882.3
p.P297fs
c.889_890fs
5 papers
NM_017882.3
p.P297T
c.889C>A
1 paper
NM_017882.3
p.Y295C
c.884A>G
1 paper
NM_017882.3
p.Y303*
c.909C>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."