Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.R127insFs

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.R127insFs
c.379dupC
Surrounding Variants
3 papers
NM_001042432.2
p.S125_P126insFs
c.375_376insCC
4 papers
NM_001042432.2
p.R127Q
c.380G>A
1 paper
NM_001042432.2
p.R127delFs
c.379delG
1 paper
NM_001042432.2
p.R127fs
c.379_380fs
1 paper
NM_001042432.2
p.P126S
c.376C>T
3 papers
NM_001042432.2
p.S125Splc
c.375-1G>T
3 papers
NM_001042432.2
p.S125N
c.374G>A
1 paper
NM_001042432.2
p.S125G
c.373A>G
2 papers
NM_001042432.2
p.V130I
c.388G>A
4 papers
NM_001042432.2
p.S131R
c.391A>C
1 paper
NM_001042432.2
p.S131fs
c.391_392fs
4 papers
NM_001042432.2
p.S131R
c.393T>G
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