Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.V155fs

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.V155fs
c.463_464fs
Surrounding Variants
1 paper
NM_001042432.2
p.V155G
c.464T>G
7 papers
NM_001042432.2
p.G154fs
c.460_461fs
1 paper
NM_001042432.2
p.G154A
c.461G>C
3 papers
NM_001042432.2
p.G154Splc
c.461-1G>C
4 papers
NM_001042432.2
p.G154Splc
c.461-3C>G
2 papers
NM_001042432.2
p.G154Splc
c.461-3C>A
1 paper
NM_001042432.2
p.V156_F157delins
c.468_469delinsCC
1 paper
NM_001042432.2
p.V156del1
c.466_467delGAC
1 paper
NM_001042432.2
p.F157Y
c.470T>A
1 paper
NM_001042432.2
p.F157L
c.471C>A
7 papers
NM_001042432.2
p.A158P
c.472G>C
1 paper
NM_001042432.2
p.A158T
c.472G>A
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