Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.Y142insFs

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.Y142insFs
c.424dupT
Surrounding Variants
2 papers
NM_017882.3
p.Y142C
c.425A>G
2 papers
NM_017882.3
p.Y142*
c.426C>G
1 paper
NM_017882.3
p.Y142fs
c.424_425fs
2 papers
NM_017882.3
p.Y142*
c.426C>A
1 paper
NM_017882.3
p.H144N
c.430C>A
1 paper
NM_017882.3
p.H145R
c.434A>G
1 paper
NM_017882.3
p.H145P
c.434A>C
1 paper
NM_017882.3
p.R136_L137del2
c.406_410del6
1 paper
NM_017882.3
p.S147P
c.439T>C
1 paper
NM_017882.3
p.L137insFs
c.410_411ins4
1 paper
NM_017882.3
p.R136_L137del1
c.407_409delGGC
1 paper
NM_017882.3
p.V148L
c.442G>C
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