Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.G118D

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.G118D
c.353G>A
Surrounding Variants
1 paper
NM_001042432.2
p.G118V
c.353G>T
1 paper
NM_001042432.2
p.G118G
c.354C>T
1 paper
NM_001042432.2
p.L119F
c.355C>T
1 paper
NM_001042432.2
p.L119H
c.356T>A
1 paper
NM_001042432.2
p.L114insFs
c.340_341insT
1 paper
NM_001042432.2
p.L113insFs
c.339dupG
2 papers
NM_001042432.2
p.L113delFs
c.339delC
3 papers
NM_001042432.2
p.L114fs
c.340_341fs
4 papers
NM_001042432.2
p.Y124insFs
c.371_372insT
1 paper
NM_001042432.2
p.Y124fs
c.370_371fs
1 paper
NM_001042432.2
p.L106_I111del6
c.316_332del18
1 paper
NM_001042432.2
p.S125G
c.373A>G
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