Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.T40K

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.T40K
c.119C>A
Surrounding Variants
1 paper
NM_017882.3
p.T40S
c.118A>T
1 paper
NM_017882.3
p.R39G
c.115C>G
1 paper
NM_017882.3
p.P42A
c.124C>G
1 paper
NM_017882.3
p.E36D
c.108G>C
1 paper
NM_017882.3
p.L45I
c.133C>A
1 paper
NM_017882.3
p.H44delFs
c.132delG
1 paper
NM_017882.3
p.D46N
c.136G>A
4 papers
NM_017882.3
p.A34T
c.100G>A
1 paper
NM_017882.3
p.D46delFs
c.136_137delTC
7 papers
NM_017882.3
p.L47F
c.139C>T
1 paper
NM_017882.3
p.W48*
c.143G>A
1 paper
NM_017882.3
p.W48*
c.144G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."