Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.T75P

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
7 papers
NM_006493.4
p.T75P
c.223A>C
Surrounding Variants
1 paper
NM_006493.4
p.Y74H
c.220T>C
1 paper
NM_006493.4
p.F76L
c.226T>C
1 paper
NM_006493.4
p.F76L
c.228C>A
1 paper
NM_006493.4
p.F76L
c.228C>G
1 paper
NM_006493.4
p.C77Y
c.230G>A
4 papers
NM_006493.4
p.A72S
c.214G>T
1 paper
NM_006493.4
p.C70Y
c.209G>A
1 paper
NM_006493.4
p.C70S
c.209G>C
6 papers
NM_006493.4
p.R63H
c.188G>A
2 papers
NM_006493.4
p.R63P
c.188G>C
2 papers
NM_006493.4
p.R63C
c.187C>T
1 paper
NM_006493.4
p.D89A
c.266A>C
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