Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.V277L

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
2 papers
NM_017882.3
p.V277L
c.829G>C
Surrounding Variants
3 papers
NM_017882.3
p.V277fs
c.829_830fs
1 paper
NM_017882.3
p.V277fs
c.829_830fs
3 papers
NM_017882.3
p.W276G
c.826T>G
1 paper
NM_017882.3
p.A278T
c.832G>A
2 papers
NM_017882.3
p.V277_A278delFs
c.829_832del4
5 papers
NM_017882.3
p.A274A
c.822G>A
5 papers
NM_017882.3
p.V277_W279Fs
c.829_836delinsCCTFs
1 paper
NM_017882.3
p.W279delins
c.837delinsCCTG
1 paper
NM_017882.3
p.A274V
c.821C>T
4 papers
NM_017882.3
p.W279delFs
c.837delC
1 paper
NM_017882.3
p.W281*
c.842G>A
1 paper
NM_017882.3
p.L272P
c.815T>C
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