Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.S161*

CLN3

436 papers

RefSeq Summary

This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as B...

Pfam Domains

CLN3aa 39–437UCSCCLN3 protein

Gene Aliases

HGNC Name

CLN3 lysosomal/endosomal transmembrane protein, battenin

HGNC Previous Symbol

BTS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001042432.2
p.S161*
c.482C>G
Surrounding Variants
2 papers
NM_001042432.2
p.S161L
c.482C>T
2 papers
NM_001042432.2
p.S161*
c.482C>A
4 papers
NM_001042432.2
p.S162*
c.485C>G
4 papers
NM_001042432.2
p.S162*
c.485C>A
1 paper
NM_001042432.2
p.S159_I160insTAA
c.475_479ins9
1 paper
NM_001042432.2
p.L164F
c.490C>T
1 paper
NM_001042432.2
p.A158V
c.473C>T
2 papers
NM_001042432.2
p.A158D
c.473C>A
7 papers
NM_001042432.2
p.A158P
c.472G>C
1 paper
NM_001042432.2
p.A158T
c.472G>A
1 paper
NM_001042432.2
p.F157L
c.471C>A
1 paper
NM_001042432.2
p.F157Y
c.470T>A
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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."