Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.E204*

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.E204*
c.610G>T
Surrounding Variants
1 paper
NM_006493.4
p.D202N
c.604G>A
1 paper
NM_006493.4
p.Q201Q
c.603G>A
1 paper
NM_006493.4
p.Y208_Y209delFs
c.623_627del5
3 papers
NM_006493.4
p.Y209D
c.625T>G
1 paper
NM_006493.4
p.Y209C
c.626A>G
1 paper
NM_006493.4
p.W198*
c.594G>A
1 paper
NM_006493.4
p.W198*
c.593G>A
1 paper
NM_006493.4
p.W198fs
c.592_593fs
2 papers
NM_006493.4
p.Q194R
c.581A>G
3 papers
NM_006493.4
p.N193K
c.579C>A
3 papers
NM_006493.4
p.N193K
c.579C>G
2 papers
NM_006493.4
p.V214E
c.641T>A
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