Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.K302E

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
Selected Variant
1 paper
NM_006493.4
p.K302E
c.904A>G
Surrounding Variants
1 paper
NM_006493.4
p.T301I
c.902C>T
1 paper
NM_006493.4
p.E303*
c.907G>T
5 papers
NM_006493.4
p.S307delFs
c.919delA
1 paper
NM_006493.4
p.S307G
c.919A>G
2 papers
NM_006493.4
p.P297T
c.889C>A
1 paper
NM_006493.4
p.L308P
c.923T>C
4 papers
NM_006493.4
p.L309delFs
c.925_926delTT
1 paper
NM_006493.4
p.L309fs
c.925_926fs
2 papers
NM_006493.4
p.P294H
c.881C>A
1 paper
NM_006493.4
p.Y293*
c.879C>A
1 paper
NM_006493.4
p.Y293*
c.879C>G
1 paper
NM_006493.4
p.F312fs
c.934_935fs
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."