Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.F49del1

CLN6

297 papers

RefSeq Summary

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative diso...

Pfam Domains

CLN6aa 30–309UCSCCeroid-lipofuscinosis neuronal protein 6

Gene Aliases

HGNC Name

CLN6 transmembrane ER protein

HGNC Alias Symbols

FLJ20561; HsT18960; nclf

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017882.3
p.F49del1
c.145_146delGAA
Surrounding Variants
1 paper
NM_017882.3
p.Y50H
c.148T>C
9 papers
NM_017882.3
p.Y50*
c.150C>G
9 papers
NM_017882.3
p.Y50*
c.150C>A
1 paper
NM_017882.3
p.Y50_F51insFs
c.150_151insC
1 paper
NM_017882.3
p.W48*
c.144G>A
1 paper
NM_017882.3
p.W48*
c.143G>A
1 paper
NM_017882.3
p.L53P
c.158T>C
7 papers
NM_017882.3
p.L47F
c.139C>T
1 paper
NM_017882.3
p.D46delFs
c.136_137delTC
1 paper
NM_017882.3
p.Q54insFs
c.160dupC
1 paper
NM_017882.3
p.D46N
c.136G>A
1 paper
NM_017882.3
p.N55Y
c.163A>T
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