Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.H60H

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.H60H
c.180C>T
Surrounding Variants
1 paper
NM_001042432.2
p.H60Fs
c.178_180delinsACATCCTTAGCCACAAGAGFs
1 paper
NM_001042432.2
p.H60Fs
c.178_180delinsACATCCTTAGCCAFs
1 paper
NM_001042432.2
p.D61N
c.181G>A
1 paper
NM_001042432.2
p.H60Fs
c.178_180delinsACFs
1 paper
NM_001042432.2
p.H60fs
c.178_179fs
2 papers
NM_001042432.2
p.A59delFs
c.175delC
1 paper
NM_001042432.2
p.D61del1
c.181_182delGTC
19 papers
NM_001042432.2
p.A59T
c.175G>A
3 papers
NM_001042432.2
p.S57insFs
c.170_171insA
2 papers
NM_001042432.2
p.M55insFs
c.163_164insA
1 paper
NM_001042432.2
p.M55L
c.163A>T
1 paper
NM_001042432.2
p.M55L
c.163A>C
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