Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.W321*

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.W321*
c.963G>A
Surrounding Variants
1 paper
NM_001042432.2
p.W321Splc
c.963-1G>T
1 paper
NM_001042432.2
p.W321*
c.962G>A
3 papers
NM_001042432.2
p.Y322*
c.966C>G
3 papers
NM_001042432.2
p.Y322*
c.966C>A
1 paper
NM_001042432.2
p.Q323K
c.967C>A
1 paper
NM_001042432.2
p.Q323Q
c.969G>A
1 paper
NM_001042432.2
p.Y326_Q327insT
c.976_980ins3
1 paper
NM_001042432.2
p.Y326fs
c.976_977fs
1 paper
NM_001042432.2
p.W321Splc
c.963-13A>G
1 paper
NM_001042432.2
p.Y326C
c.977A>G
1 paper
NM_001042432.2
p.Y326insFs
c.976dupT
2 papers
NM_001042432.2
p.Q327*
c.979C>T
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