Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.L63_K66del4

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.L63_K66del4
c.187_197del12
Surrounding Variants
2 papers
NM_001042432.2
p.S69L
c.206C>T
2 papers
NM_001042432.2
p.S69*
c.206C>A
3 papers
NM_001042432.2
p.G70E
c.209G>A
1 paper
NM_001042432.2
p.D61del1
c.181_182delGTC
1 paper
NM_001042432.2
p.Q72Q
c.216G>A
1 paper
NM_001042432.2
p.D61N
c.181G>A
1 paper
NM_001042432.2
p.H60H
c.180C>T
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.H60Fs
c.178_180delinsACFs
1 paper
NM_001042432.2
p.H60fs
c.178_179fs
2 papers
NM_001042432.2
p.A59delFs
c.175delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."