Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.G189R

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.G189R
c.565G>C
Surrounding Variants
1 paper
NM_006493.4
p.G189R
c.565G>A
1 paper
NM_006493.4
p.G189Splc
c.565+1G>A
1 paper
NM_006493.4
p.S188*
c.563C>G
2 papers
NM_006493.4
p.S188P
c.562T>C
3 papers
NM_006493.4
p.V184I
c.550G>A
1 paper
NM_006493.4
p.Q183*
c.547C>T
1 paper
NM_006493.4
p.V182A
c.545T>C
2 papers
NM_006493.4
p.V182G
c.545T>G
4 papers
NM_006493.4
p.W175*
c.525G>A
5 papers
NM_006493.4
p.K176insFs
c.527_528insA
4 papers
NM_006493.4
p.W175*
c.524G>A
1 paper
NM_006493.4
p.W175insFs
c.524_525insA
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