Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.G189R

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
7 papers
NM_001042432.2
p.G189R
c.565G>A
Surrounding Variants
3 papers
NM_001042432.2
p.G189W
c.565G>T
8 papers
NM_001042432.2
p.G189R
c.565G>C
1 paper
NM_001042432.2
p.G190R
c.568G>A
1 paper
NM_001042432.2
p.G187fs
c.559_560fs
12 papers
NM_001042432.2
p.G187A
c.560G>C
3 papers
NM_001042432.2
p.S186_G187delFs
c.558_559delCT
1 paper
NM_001042432.2
p.G190insFs
c.569dupG
3 papers
NM_001042432.2
p.G187fs
c.559_560fs
1 paper
NM_001042432.2
p.S186fs
c.556_557fs
1 paper
NM_001042432.2
p.S186*
c.557C>G
1 paper
NM_001042432.2
p.S186*
c.557C>A
1 paper
NM_001042432.2
p.S185_S186insFs
c.555_556insC
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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."