Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.L101P

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
20 papers
NM_001042432.2
p.L101P
c.302T>C
Surrounding Variants
1 paper
NM_001042432.2
p.A99fs
c.295_296fs
6 papers
NM_001042432.2
p.A98_A99Splc
c.295-1G>C
1 paper
NM_001042432.2
p.A98_A99Splc
c.295-1G>A
1 paper
NM_001042432.2
p.A98_A99Splc
c.295-2A>C
3 papers
NM_001042432.2
p.I105V
c.313A>G
2 papers
NM_001042432.2
p.L106insFs
c.316dupC
1 paper
NM_001042432.2
p.T108S
c.322A>T
1 paper
NM_001042432.2
p.L109insFs
c.326_327insT
1 paper
NM_001042432.2
p.L106_I111del6
c.316_332del18
1 paper
NM_001042432.2
p.L113insFs
c.339dupG
2 papers
NM_001042432.2
p.L113delFs
c.339delC
3 papers
NM_001042432.2
p.L114fs
c.340_341fs
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