Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.M133R

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
2 papers
NM_006493.4
p.M133R
c.398T>G
Surrounding Variants
1 paper
NM_006493.4
p.Y131delFs
c.391_392delTA
1 paper
NM_006493.4
p.K129R
c.386A>G
2 papers
NM_006493.4
p.G128fs
c.382_383fs
3 papers
NM_006493.4
p.F139L
c.415T>C
1 paper
NM_006493.4
p.T127fs
c.379_380fs
3 papers
NM_006493.4
p.F139L
c.417C>A
3 papers
NM_006493.4
p.F139L
c.417C>G
1 paper
NM_006493.4
p.Q140E
c.418C>G
1 paper
NM_006493.4
p.Q140*
c.418C>T
2 papers
NM_006493.4
p.L126*
c.377T>A
2 papers
NM_006493.4
p.L126*
c.377T>G
1 paper
NM_006493.4
p.T127insFs
c.379dupA
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