Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.L162_I163Splc

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.L162_I163Splc
c.486+28T>C
Surrounding Variants
4 papers
NM_017882.3
p.L162_I163Splc
c.486+8C>T
1 paper
NM_017882.3
p.L162_I163Splc
c.486+5G>A
1 paper
NM_017882.3
p.L162_I163Splc
c.486+51C>T
1 paper
NM_017882.3
p.L162_I163Splc
c.486+4A>T
3 papers
NM_017882.3
p.L162_I163Splc
c.486+2T>C
1 paper
NM_017882.3
p.L162_I163Splc
c.486+2T>A
3 papers
NM_017882.3
p.L162_I163Splc
c.486+1G>T
5 papers
NM_017882.3
p.L162R
c.485T>G
1 paper
NM_017882.3
p.T161R
c.482C>G
8 papers
NM_017882.3
p.P159L
c.476C>T
3 papers
NM_017882.3
p.K158Q
c.472A>C
1 paper
NM_017882.3
p.N156_L157delins
c.468_469delinsCC
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