Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.V142delFs

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
12 papers
NM_001042432.2
p.V142delFs
c.424delC
Surrounding Variants
1 paper
NM_001042432.2
p.V142fs
c.424_425fs
3 papers
NM_001042432.2
p.V142fs
c.424_425fs
1 paper
NM_001042432.2
p.A143T
c.427G>A
1 paper
NM_001042432.2
p.F144Y
c.431T>A
1 paper
NM_001042432.2
p.G137insFs
c.410_411ins4
1 paper
NM_001042432.2
p.G137E
c.410G>A
1 paper
NM_001042432.2
p.V142_S147delFs
c.424_440del17
1 paper
NM_001286109.2
p.G59R
c.175G>A
1 paper
NM_001042432.2
p.V148M
c.442G>A
1 paper
NM_001042432.2
p.F144_V148delFs
c.431_443del13
1 paper
NM_001042432.2
p.V148del1
c.442_443delCAC
4 papers
NM_001042432.2
p.C134R
c.400T>C
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