Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.M13I

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.M13I
c.39G>C
Surrounding Variants
1 paper
NM_006493.4
p.A17_G18del2
c.49_53del6
1 paper
NM_006493.4
p.A17G
c.50C>G
3 papers
NM_006493.4
p.A17delFs
c.51delG
1 paper
NM_006493.4
p.T7P
c.19A>C
8 papers
NM_006493.4
p.R21W
c.61C>T
1 paper
NM_006493.4
p.D6delFs
c.17_18delAC
1 paper
NM_006493.4
p.E4Q
c.10G>C
1 paper
NM_006493.4
p.E4_A11delFs
c.11_32del22
1 paper
NM_006493.4
p.Q3K
c.7C>A
1 paper
NM_006493.4
p.A2V
c.5C>T
1 paper
NM_006493.4
p.A2delFs
c.6delG
1 paper
NM_006493.4
p.S25A
c.73T>G
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