Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.T254fs

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.T254fs
c.760_761fs
Surrounding Variants
1 paper
NM_006493.4
p.N255insFs
c.764dupA
1 paper
NM_006493.4
p.E253K
c.757G>A
1 paper
NM_006493.4
p.E253Q
c.757G>C
8 papers
NM_006493.4
p.E253*
c.757G>T
2 papers
NM_006493.4
p.I252_E253insFs
c.756_757insC
1 paper
NM_006493.4
p.R258fs
c.772_773fs
1 paper
NM_006493.4
p.F249Fs
c.747delinsTTFs
1 paper
NM_006493.4
p.R258K
c.773G>A
2 papers
NM_006493.4
p.I259insFs
c.775_776insA
2 papers
NM_006493.4
p.A247_F249Fs
c.741_747delinsTTFs
1 paper
NM_006493.4
p.S263R
c.787A>C
1 paper
NM_006493.4
p.S263G
c.787A>G
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