Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.E93delFs

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.E93delFs
c.279delA
Surrounding Variants
1 paper
NM_006493.4
p.V94F
c.280G>T
6 papers
NM_006493.4
p.R96*
c.286C>T
1 paper
NM_006493.4
p.D90insFs
c.268_269insC
3 papers
NM_006493.4
p.R96P
c.287G>C
1 paper
NM_006493.4
p.R96delFs
c.288delA
1 paper
NM_006493.4
p.D89A
c.266A>C
5 papers
NM_006493.4
p.L97_Q98insFs
c.291_292insC
1 paper
NM_006493.4
p.P100S
c.298C>T
1 paper
NM_006493.4
p.W102*
c.305G>A
1 paper
NM_006493.4
p.W102*
c.306G>A
1 paper
NM_006493.4
p.Y106insFs
c.316_317insC
1 paper
NM_006493.4
p.G107_D108del2
c.319_323del6
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