Varaico: Literature-Extracted Genetic Variants

Gene:CLN5

CLN5

169 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

CLN5aa 51–195UCSCCeroid-lipofuscinosis neuronal protein 5

Gene Aliases

HGNC Name

CLN5 lysosomal BMP synthase

HGNC Previous Names

ceroid-lipofuscinosis, neuronal 5; CLN5 intracellular trafficking protein

Papers
RefSeq ID
Protein change
DNA change
1–12 of 217 variants
10 papers
NM_006493.4
p.P151S
c.451C>T
8 papers
NM_006493.4
p.R21W
c.61C>T
8 papers
NM_006493.4
p.E253*
c.757G>T
7 papers
NM_006493.4
p.T75P
c.223A>C
7 papers
NM_006493.4
p.L358fs
c.1072_1073fs
6 papers
NM_006493.4
p.R63H
c.188G>A
6 papers
NM_006493.4
p.R96*
c.286C>T
5 papers
NM_006493.4
p.L97_Q98insFs
c.291_292insC
5 papers
NM_006493.4
p.H112Y
c.334C>T
5 papers
NM_006493.4
p.K176insFs
c.527_528insA
5 papers
NM_006493.4
p.G221insFs
c.662dupG
5 papers
NM_006493.4
p.S307delFs
c.919delA
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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."