Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.A347V

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.A347V
c.1040C>T
Surrounding Variants
2 papers
NM_001042432.2
p.A349_L350del0
c.1045_1050del6
1 paper
NM_001042432.2
p.R343H
c.1028G>A
1 paper
NM_001042432.2
p.R343C
c.1027C>T
19 papers
NM_001042432.2
p.Q352*
c.1054C>T
5 papers
NM_001042432.2
p.Q352H
c.1056G>T
5 papers
NM_001042432.2
p.Q352H
c.1056G>C
1 paper
NM_001042432.2
p.Q352Q
c.1056G>A
1 paper
NM_001042432.2
p.Q352delFs
c.1055delT
2 papers
NM_001042432.2
p.Q352delFs
c.1056delC
9 papers
NM_001042432.2
p.Q352_C353Splc
c.1056+3A>C
1 paper
NM_001042432.2
p.C340_R341insT
c.1018_1022ins3
1 paper
NM_001042432.2
p.R338L
c.1013G>T
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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."