Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.A332V

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.A332V
c.995C>T
Surrounding Variants
1 paper
NM_001042432.2
p.S333F
c.998C>T
25 papers
NM_001042432.2
p.R334C
c.1000C>T
34 papers
NM_001042432.2
p.R334H
c.1001G>A
18 papers
NM_001042432.2
p.V330F
c.988G>T
1 paper
NM_001042432.2
p.V330L
c.988G>C
5 papers
NM_001042432.2
p.V330I
c.988G>A
1 paper
NM_001042432.2
p.G329delFs
c.986delC
1 paper
NM_001042432.2
p.G329R
c.985G>C
1 paper
NM_001042432.2
p.G329S
c.985G>A
1 paper
NM_001042432.2
p.G329fs
c.985_986fs
1 paper
NM_001042432.2
p.A328A
c.984T>C
1 paper
NM_001042432.2
p.S336Y
c.1007C>A
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