Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.G165_V167delFs

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.G165_V167delFs
c.495_499del5
Surrounding Variants
1 paper
NM_001042432.2
p.F169_L170insA
c.505_509ins3
8 papers
NM_001042432.2
p.G165E
c.494G>A
20 papers
NM_001042432.2
p.L170P
c.509T>C
1 paper
NM_001042432.2
p.L170L
c.510C>T
1 paper
NM_001042432.2
p.L164F
c.490C>T
2 papers
NM_001042432.2
p.S171delFs
c.511delA
4 papers
NM_001042432.2
p.S162*
c.485C>G
4 papers
NM_001042432.2
p.S162*
c.485C>A
1 paper
NM_001042432.2
p.T173A
c.517A>G
2 papers
NM_001042432.2
p.S161L
c.482C>T
2 papers
NM_001042432.2
p.S161*
c.482C>G
2 papers
NM_001042432.2
p.S161*
c.482C>A
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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."