Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.S51S

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.S51S
c.153T>C
Surrounding Variants
2 papers
NM_001042432.2
p.S51F
c.152C>T
1 paper
NM_001042432.2
p.F50F
c.150C>T
1 paper
NM_001042432.2
p.N49_Y52del4
c.145_155del12
1 paper
NM_001042432.2
p.V53_V54ins1
c.159_160insTAA
1 paper
NM_001042432.2
p.N49K
c.147C>G
1 paper
NM_001042432.2
p.N49K
c.147C>A
2 papers
NM_001042432.2
p.V54M
c.160G>A
1 paper
NM_001042432.2
p.M55L
c.163A>T
1 paper
NM_001042432.2
p.N48I
c.143A>T
1 paper
NM_001042432.2
p.M55L
c.163A>C
2 papers
NM_001042432.2
p.M55insFs
c.163_164insA
1 paper
NM_001042432.2
p.C47_N48insG
c.139_143ins3
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