Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.E295D

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
1 paper
NM_001042432.2
p.E295D
c.885G>T
Surrounding Variants
1 paper
NM_001042432.2
p.E295D
c.885G>C
2 papers
NM_001042432.2
p.E295G
c.884A>G
5 papers
NM_001042432.2
p.E295*
c.883G>T
45 papers
NM_001042432.2
p.E295K
c.883G>A
4 papers
NM_001042432.2
p.A294D
c.881C>A
1 paper
NM_001042432.2
p.Y292F
c.875A>T
1 paper
NM_001042432.2
p.V291_Y292insC
c.871_875ins3
1 paper
NM_001042432.2
p.V291I
c.871G>A
1 paper
NM_001042432.2
p.Q300H
c.900G>T
1 paper
NM_001042432.2
p.Q300H
c.900G>C
1 paper
NM_001042432.2
p.V290A
c.869T>C
1 paper
NM_001042432.2
p.G301R
c.901G>C
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."