Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.A163T

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.A163T
c.487G>A
Surrounding Variants
4 papers
NM_006493.4
p.C159C
c.477T>C
2 papers
NM_006493.4
p.C159Y
c.476G>A
3 papers
NM_006493.4
p.C159R
c.475T>C
1 paper
NM_006493.4
p.F167fs
c.499_500fs
1 paper
NM_006493.4
p.W158S
c.473G>C
2 papers
NM_006493.4
p.W158R
c.472T>A
2 papers
NM_006493.4
p.W158R
c.472T>C
1 paper
NM_006493.4
p.P156_F157delins
c.468_469delinsCC
2 papers
NM_006493.4
p.P156S
c.466C>T
10 papers
NM_006493.4
p.P151S
c.451C>T
1 paper
NM_006493.4
p.W175delFs
c.525delG
1 paper
NM_006493.4
p.W175fs
c.523_524fs
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."