Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.W263C

CLN8

208 papers

RefSeq Summary

This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to...

Pfam Domains

TRAM_LAG1_CLN8aa 63–254UCSCTLC domain

Gene Aliases

HGNC Name

CLN8 transmembrane ER and ERGIC protein

HGNC Previous Symbols

EPMR; C8orf61

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
18 papers
NM_018941.4
p.W263C
c.789G>T
Surrounding Variants
1 paper
NM_018941.4
p.W263*
c.789G>A
19 papers
NM_018941.4
p.W263C
c.789G>C
1 paper
NM_018941.4
p.W263*
c.788G>A
8 papers
NM_018941.4
p.N264K
c.792C>A
8 papers
NM_018941.4
p.N264K
c.792C>G
1 paper
NM_018941.4
p.D262N
c.784G>A
1 paper
NM_018941.4
p.D262Y
c.784G>T
1 paper
NM_018941.4
p.A266T
c.796G>A
1 paper
NM_018941.4
p.V261A
c.782T>C
1 paper
NM_018941.4
p.Q267_P268insC
c.799_803ins3
3 papers
NM_018941.4
p.P260L
c.779C>T
1 paper
NM_018941.4
p.Q267H
c.801G>C
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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."