Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.L100R

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.L100R
c.299T>G
Surrounding Variants
1 paper
NM_017882.3
p.I101insFs
c.301_302insC
1 paper
NM_017882.3
p.K99_L100Splc
c.298-6C>T
9 papers
NM_017882.3
p.R103W
c.307C>T
13 papers
NM_017882.3
p.R103insFs
c.307_308insC
2 papers
NM_017882.3
p.R103P
c.308G>C
10 papers
NM_017882.3
p.R103Q
c.308G>A
4 papers
NM_017882.3
p.S104F
c.311C>T
1 paper
NM_017882.3
p.P105T
c.313C>A
2 papers
NM_017882.3
p.R106C
c.316C>T
4 papers
NM_017882.3
p.R106fs
c.316_317fs
1 paper
NM_017882.3
p.R106L
c.317G>T
18 papers
NM_017882.3
p.R106insFs
c.316dupC
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