Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.S45ins1

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.S45ins1
c.133_134insTGT
Surrounding Variants
2 papers
NM_006493.4
p.R43delFs
c.128delG
1 paper
NM_006493.4
p.P48insFs
c.144dupC
1 paper
NM_006493.4
p.S49fs
c.145_146fs
1 paper
NM_006493.4
p.P39L
c.116C>T
1 paper
NM_006493.4
p.R50Q
c.149G>A
1 paper
NM_006493.4
p.R50_R51insFs
c.150_151insC
2 papers
NM_006493.4
p.W53*
c.158G>A
1 paper
NM_006493.4
p.A36delFs
c.107_108delCG
1 paper
NM_006493.4
p.L35I
c.103C>A
1 paper
NM_006493.4
p.L35F
c.103C>T
2 papers
NM_006493.4
p.V55insFs
c.163_164insA
1 paper
NM_006493.4
p.P56T
c.166C>A
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