Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.Y343*

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
3 papers
NM_006493.4
p.Y343*
c.1029T>A
Surrounding Variants
3 papers
NM_006493.4
p.Y343*
c.1029T>G
1 paper
NM_006493.4
p.Y343delFs
c.1028_1029delAT
1 paper
NM_006493.4
p.S356_G357delFs
c.1068_1069delTG
2 papers
NM_006493.4
p.W330*
c.990G>A
1 paper
NM_006493.4
p.W330C
c.990G>C
1 paper
NM_006493.4
p.W330C
c.990G>T
2 papers
NM_006493.4
p.W330*
c.989G>A
1 paper
NM_006493.4
p.G357R
c.1069G>C
4 papers
NM_006493.4
p.L358delFs
c.1072_1073delTT
7 papers
NM_006493.4
p.L358fs
c.1072_1073fs
1 paper
NM_006493.4
p.Y325C
c.974A>G
1 paper
NM_006493.4
p.Y322*
c.966T>A
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