Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.G276V

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
1 paper
NM_018941.4
p.G276V
c.827G>T
Surrounding Variants
2 papers
NM_018941.4
p.N277_Q279Fs
c.829_836delinsCCTFs
1 paper
NM_018941.4
p.Q279delins
c.837delinsCCTG
1 paper
NM_018941.4
p.L281V
c.841C>G
2 papers
NM_018941.4
p.K283R
c.848A>G
3 papers
NM_018941.4
p.E269V
c.806A>T
2 papers
NM_018941.4
p.K284R
c.851A>G
1 paper
NM_018941.4
p.Q267H
c.801G>C
1 paper
NM_018941.4
p.Q267H
c.801G>T
1 paper
NM_018941.4
p.Q267_P268insC
c.799_803ins3
1 paper
NM_018941.4
p.A266T
c.796G>A
8 papers
NM_018941.4
p.N264K
c.792C>A
8 papers
NM_018941.4
p.N264K
c.792C>G
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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."