Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.P75fs

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.P75fs
c.223_224fs
Surrounding Variants
1 paper
NM_017882.3
p.P75L
c.224C>T
2 papers
NM_017882.3
p.P75delFs
c.224delG
1 paper
NM_017882.3
p.F74L
c.220T>C
1 paper
NM_017882.3
p.N77Y
c.229A>T
1 paper
NM_017882.3
p.N77S
c.230A>G
8 papers
NM_017882.3
p.N77K
c.231C>G
8 papers
NM_017882.3
p.N77K
c.231C>A
1 paper
NM_017882.3
p.N77delFs
c.229_230delTT
27 papers
NM_017882.3
p.E72*
c.214G>T
8 papers
NM_017882.3
p.E72Q
c.214G>C
1 paper
NM_017882.3
p.L71V
c.211C>G
2 papers
NM_017882.3
p.P70L
c.209C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."