Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.R123delFs

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.R123delFs
c.368delG
Surrounding Variants
1 paper
NM_006493.4
p.R123fs
c.367_368fs
1 paper
NM_006493.4
p.R123K
c.368G>A
1 paper
NM_006493.4
p.S124delFs
c.371delG
1 paper
NM_006493.4
p.G121R
c.361G>A
2 papers
NM_006493.4
p.G121R
c.361G>C
1 paper
NM_006493.4
p.G121insFs
c.361dupG
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
1 paper
NM_006493.4
p.T127fs
c.379_380fs
2 papers
NM_006493.4
p.G128fs
c.382_383fs
1 paper
NM_006493.4
p.H117P
c.350A>C
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