Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.S307delFs

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
5 papers
NM_006493.4
p.S307delFs
c.919delA
Surrounding Variants
1 paper
NM_006493.4
p.S307G
c.919A>G
1 paper
NM_006493.4
p.L308P
c.923T>C
4 papers
NM_006493.4
p.L309delFs
c.925_926delTT
1 paper
NM_006493.4
p.L309fs
c.925_926fs
1 paper
NM_006493.4
p.E303*
c.907G>T
1 paper
NM_006493.4
p.K302E
c.904A>G
1 paper
NM_006493.4
p.T301I
c.902C>T
1 paper
NM_006493.4
p.F312fs
c.934_935fs
2 papers
NM_006493.4
p.F312S
c.935T>C
1 paper
NM_006493.4
p.D313N
c.937G>A
1 paper
NM_006493.4
p.V315_I316insFs
c.945_946insA
2 papers
NM_006493.4
p.P297T
c.889C>A
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