Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.F139L

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.F139L
c.415T>C
Surrounding Variants
3 papers
NM_006493.4
p.F139L
c.417C>A
3 papers
NM_006493.4
p.F139L
c.417C>G
1 paper
NM_006493.4
p.Q140E
c.418C>G
1 paper
NM_006493.4
p.Q140*
c.418C>T
1 paper
NM_006493.4
p.G142_P147delFs
c.424_440del17
1 paper
NM_006493.4
p.G142R
c.424G>C
3 papers
NM_006493.4
p.N143S
c.428A>G
2 papers
NM_006493.4
p.M133R
c.398T>G
1 paper
NM_006493.4
p.P147S
c.439C>T
1 paper
NM_006493.4
p.Y131delFs
c.391_392delTA
1 paper
NM_006493.4
p.K129R
c.386A>G
1 paper
NM_006493.4
p.L149I
c.445C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."