Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.L213L

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.L213L
c.637C>T
Surrounding Variants
2 papers
NM_001042432.2
p.T212T
c.636C>T
2 papers
NM_001042432.2
p.L214fs
c.640_641fs
2 papers
NM_001042432.2
p.L214L
c.640C>T
3 papers
NM_001042432.2
p.L213delFs
c.639delC
1 paper
NM_001042432.2
p.L214fs
c.640_641fs
4 papers
NM_001042432.2
p.Q211*
c.631C>T
1 paper
NM_001042432.2
p.P209_S215delFs
c.627_643del17
1 paper
NM_001042432.2
p.M216R
c.647T>G
1 paper
NM_001042432.2
p.L217insFs
c.649dupC
1 paper
NM_001042432.2
p.L217R
c.650T>G
7 papers
NM_001042432.2
p.S208insFs
c.623_624insT
1 paper
NM_001042432.2
p.S208insFs
c.623_624insTT
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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."