Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.V129V

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.V129V
c.387G>A
Surrounding Variants
1 paper
NM_017882.3
p.V129A
c.386T>C
1 paper
NM_017882.3
p.L128V
c.382C>G
3 papers
NM_017882.3
p.S132fs
c.394_395fs
1 paper
NM_017882.3
p.H127Y
c.379C>T
1 paper
NM_017882.3
p.S132fs
c.394_395fs
1 paper
NM_017882.3
p.I126T
c.377T>C
3 papers
NM_017882.3
p.S132insFs
c.396dupT
1 paper
NM_017882.3
p.V133I
c.397G>A
11 papers
NM_017882.3
p.S132delFs
c.395_396delAG
1 paper
NM_017882.3
p.S132del1
c.394_395delAGA
1 paper
NM_017882.3
p.V133fs
c.397_398fs
1 paper
NM_017882.3
p.V133fs
c.397_398fs
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."