Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.S263R

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.S263R
c.789T>G
Surrounding Variants
1 paper
NM_006493.4
p.S263R
c.789T>A
1 paper
NM_006493.4
p.S263N
c.788G>A
1 paper
NM_006493.4
p.S263R
c.787A>C
1 paper
NM_006493.4
p.S263G
c.787A>G
1 paper
NM_006493.4
p.E265*
c.793G>T
1 paper
NM_006493.4
p.R258K
c.773G>A
2 papers
NM_006493.4
p.I259insFs
c.775_776insA
1 paper
NM_006493.4
p.R258fs
c.772_773fs
1 paper
NM_006493.4
p.G270fs
c.808_809fs
1 paper
NM_006493.4
p.N271D
c.811A>G
1 paper
NM_006493.4
p.N271S
c.812A>G
1 paper
NM_006493.4
p.N255insFs
c.764dupA
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