Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.F321L

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.F321L
c.961T>C
Surrounding Variants
2 papers
NM_006493.4
p.Q320R
c.959A>G
1 paper
NM_006493.4
p.F321L
c.963C>A
1 paper
NM_006493.4
p.F321L
c.963C>G
1 paper
NM_006493.4
p.Y322C
c.965A>G
2 papers
NM_006493.4
p.K319R
c.956A>G
1 paper
NM_006493.4
p.Y322*
c.966T>A
1 paper
NM_006493.4
p.Y322*
c.966T>G
2 papers
NM_006493.4
p.K319fs
c.955_956fs
3 papers
NM_006493.4
p.K319_F324delFs
c.955_970del16
1 paper
NM_006493.4
p.K319_Q320delFs
c.956_959del4
1 paper
NM_006493.4
p.Y325C
c.974A>G
1 paper
NM_006493.4
p.V315_I316insFs
c.945_946insA
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