Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.R290K

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.R290K
c.869G>A
Surrounding Variants
1 paper
NM_006493.4
p.F291L
c.871T>C
2 papers
NM_006493.4
p.F291_Y292insC
c.871_875ins3
1 paper
NM_006493.4
p.Y293*
c.879C>A
1 paper
NM_006493.4
p.Y293*
c.879C>G
2 papers
NM_006493.4
p.P294H
c.881C>A
2 papers
NM_006493.4
p.P297T
c.889C>A
1 paper
NM_006493.4
p.T279delins
c.837delinsCCTG
1 paper
NM_006493.4
p.T301I
c.902C>T
1 paper
NM_006493.4
p.K302E
c.904A>G
1 paper
NM_006493.4
p.E303*
c.907G>T
2 papers
NM_006493.4
p.G277_T279Fs
c.829_837delinsCCTGFs
1 paper
NM_006493.4
p.F276L
c.826T>C
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