Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.V214E

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
2 papers
NM_006493.4
p.V214E
c.641T>A
Surrounding Variants
1 paper
NM_006493.4
p.E219K
c.655G>A
1 paper
NM_006493.4
p.E219insFs
c.656_657ins5
1 paper
NM_006493.4
p.Y209C
c.626A>G
3 papers
NM_006493.4
p.Y209D
c.625T>G
5 papers
NM_006493.4
p.G221insFs
c.662dupG
1 paper
NM_006493.4
p.Y208_Y209delFs
c.623_627del5
2 papers
NM_006493.4
p.G221E
c.662G>A
4 papers
NM_006493.4
p.E223_T224insFs
c.669_670insC
1 paper
NM_006493.4
p.E204*
c.610G>T
1 paper
NM_006493.4
p.D202N
c.604G>A
1 paper
NM_006493.4
p.Q201Q
c.603G>A
3 papers
NM_006493.4
p.D230N
c.688G>A
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