Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.A411delFs

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.A411delFs
c.1231delC
Surrounding Variants
2 papers
NM_001042432.2
p.A411S
c.1231G>T
1 paper
NM_001042432.2
p.A410A
c.1230G>A
1 paper
NM_001042432.2
p.T412I
c.1235C>T
1 paper
NM_001286110.2
p.T358insFs
c.1073_1074ins40
1 paper
NM_001042432.2
p.M409V
c.1225A>G
1 paper
NM_001042432.2
p.E406_F407delins
c.1218_1220delinsTAT
1 paper
NM_001042432.2
p.E406D
c.1218G>T
11 papers
NM_001042432.2
p.D416G
c.1247A>G
1 paper
NM_001042432.2
p.R405Q
c.1214G>A
1 paper
NM_001042432.2
p.T417I
c.1250C>T
26 papers
NM_001042432.2
p.R405W
c.1213C>T
1 paper
NM_001042432.2
p.R405G
c.1213C>G
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