Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.I285T

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.I285T
c.854T>C
Surrounding Variants
4 papers
NM_001042432.2
p.I285V
c.853A>G
1 paper
NM_001042432.2
p.Y284*
c.852C>G
1 paper
NM_001042432.2
p.Y284C
c.851A>G
1 paper
NM_001042432.2
p.L282insFs
c.846dupG
2 papers
NM_001042432.2
p.V289F
c.865G>T
1 paper
NM_001042432.2
p.V289A
c.866T>C
5 papers
NM_001042432.2
p.V290L
c.868G>T
5 papers
NM_001042432.2
p.V290L
c.868G>C
1 paper
NM_001042432.2
p.V290A
c.869T>C
1 paper
NM_001042432.2
p.G280D
c.839G>A
1 paper
NM_001042432.2
p.G280C
c.838G>T
1 paper
NM_001042432.2
p.V291_Y292insC
c.871_875ins3
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